ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
Variation ID: 37943 Accession: VCV000037943.103
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32339421-32339422 (GRCh38) [ NCBI UCSC ] 13: 32913565 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Apr 20, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.5073dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Trp1692fs NM_000059.3:c.5073dupA NC_000013.11:g.32339428dup NC_000013.10:g.32913565dup NG_012772.3:g.28949dup LRG_293:g.28949dup U43746.1:n.5301_5302insA - Protein change
- W1692fs
- Other names
- 5301_5302insA
- p.Trp1692MetfsX3
- p.Trp1692fs
- 5301insA
- Canonical SPDI
- NC_000013.11:32339421:AAAAAAA:AAAAAAAA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18542 | 18699 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (15) |
reviewed by expert panel
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Apr 22, 2016 | RCV000031524.30 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000044550.40 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 28, 2022 | RCV000130743.20 | |
Pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV000160294.48 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 28, 2022 | RCV000768597.11 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 2, 2020 | RCV001310152.9 | |
Pathogenic (1) |
no assertion criteria provided
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Mar 4, 2021 | RCV001391216.9 | |
not provided (1) |
no classification provided
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- | RCV001535642.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 16, 2022 | RCV002272031.11 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 13, 2023 | RCV002482932.9 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162271.8 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Apr 22, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282397.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Aug 10, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694826.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA2 c.5073dupA (p.Trp1692Metfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense … (more)
Variant summary: The BRCA2 c.5073dupA (p.Trp1692Metfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., c.5130_5133delTGTA [p.Tyr1710fs). MutationTaster predicts a damaging outcome for this variant. This variant is absent in 119116 control chromosomes (ExAC). The variant has been found in numerous patients/families with breast and/or ovarian cancer, including a confirmed de novo breast cancer case (Marshall_Clin Genet_2009). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Jul 12, 2018)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
maternal
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-HudsonAlpha
Accession: SCV000840551.1 First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
Number of individuals with the variant: 1
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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GeneKor MSA
Accession: SCV000296824.3
First in ClinVar: Jul 31, 2016 Last updated: May 04, 2020 |
Comment:
This sequence change inserts one nucleotide in exon 11 of the BRCA2 mRNA (c.5073dupA), causing a frameshift at codon 1692. This creates a premature translational … (more)
This sequence change inserts one nucleotide in exon 11 of the BRCA2 mRNA (c.5073dupA), causing a frameshift at codon 1692. This creates a premature translational stop signal 3 amino acid residues later p.(Trp1692Metfs*3) and is expected to result in an absent or disrupted protein product. Truncating variants in the BRCA2 gene are known to be pathogenic. This variant is also known as 5301insA, 5302insA, and c.5066_5067insA in the international literature and has been reported in individuals affected with breast and/or ovarian cancer, pancreatic cancer, and Fanconi anemia (PMID: 11179017, 16683254, 10923033, 22144684, 26787237, 25479140, 14559878). The mutation database ClinVar contains entries for this variant (Variation ID: 37943). (less)
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Pathogenic
(Apr 24, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000271329.4
First in ClinVar: May 29, 2016 Last updated: Jul 06, 2020 |
Comment:
The p.Trp1692MetfsX3 variant in BRCA2 has been identified in >30 individuals of various ethnicities with Fanconi anemia or BRCA2-related cancers (Risch 2001, Offit 2003, Van … (more)
The p.Trp1692MetfsX3 variant in BRCA2 has been identified in >30 individuals of various ethnicities with Fanconi anemia or BRCA2-related cancers (Risch 2001, Offit 2003, Van Der Hout 2006, Laarabi 2011, Breast Cancer Information Core database). It has also been identified in 1/8884 Ashkenazi Jewish chromosomes by the Genome Aggregation Consortium (GnomAD, http://gnomad.broadinstitute.org). This frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1692 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA2 gene is an established disease mechanism in HBOC. In addition, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282397.1). In summary, this variant meets our criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. ACMG/AMP criteria applied: PVS1, PS4, PM2. (less)
Number of individuals with the variant: 2
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Pathogenic
(Apr 02, 2020)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499730.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Nov 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001716154.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Comment:
PVS1, PM2, PP5
Number of individuals with the variant: 1
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327126.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Department of Medical Genetics, Oslo University Hospital
Accession: SCV000605702.3
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
Number of individuals with the variant: 1
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Pathogenic
(Sep 11, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000220690.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Pathogenic
(May 31, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Medulloblastoma Malignant tumor of prostate Wilms tumor 1 Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Glioma susceptibility 3 Pancreatic cancer, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002780077.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Apr 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002506294.4
First in ClinVar: May 07, 2022 Last updated: Mar 04, 2023 |
Comment:
The BRCA2 c.5073dupA; p.Trp1692MetfsTer3 variant (rs80359479), also known as 5301_5302insA or 5301insA in traditional nomenclature, is reported in the literature in multiple individuals with hereditary … (more)
The BRCA2 c.5073dupA; p.Trp1692MetfsTer3 variant (rs80359479), also known as 5301_5302insA or 5301insA in traditional nomenclature, is reported in the literature in multiple individuals with hereditary breast and ovarian cancer syndrome (Heramb 2018, Laarabi 2011, Palmero 2018, Wen 2018). This variant has also been reported as a de novo variant in an individual with early onset breast cancer (Marshall 2009), and in an individual with Fanconi anemia who was compound heterozygous with a second pathogenic BRCA2 variant (Offit 2003). The c.5073dupA variant is classified as pathogenic by an expert panel in ClinVar (Variation ID: 37943). This variant causes a frameshift by duplicating a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Heramb C et al. BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. Hered Cancer Clin Pract. 2018 Jan 10;16:3. Laarabi FZ et al. Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. Oncol Lett. 2011 Mar;2(2):389-393. Marshall M et al. Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. Clin Genet. 2009 Nov;76(5):427-30. Offit K et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51. Palmero EI et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018 Jun 15;8(1):9188. Wen WX et al. Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. J Med Genet. 2018 Feb;55(2):97-103. (less)
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Pathogenic
(Dec 29, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003834863.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004027430.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
|
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Pathogenic
(Jul 12, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296735.7
First in ClinVar: Jun 24, 2016 Last updated: Jan 06, 2024 |
Comment:
The BRCA2 c.5073dup (p.Trp1692Metfs*3) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant … (more)
The BRCA2 c.5073dup (p.Trp1692Metfs*3) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in in individuals with ampullary adenocarcinoma (PMID: 36998040 (2023)), ovarian cancer (PMID: 32850417 (2020)), and breast cancer (PMID: 28486781 (2017), 32365798 (2020)). The frequency of this variant in the general population, 0.000028 (3/107130 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Mar 09, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002021464.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000072563.16
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Trp1692Metfs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Trp1692Metfs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer, pancreatic cancer, and Fanconi anemia (PMID: 10923033, 11179017, 14559878, 16683254, 22144684, 25479140, 26787237). This variant is also known as 5301insA, 5302insA, and c.5066_5067insA. ClinVar contains an entry for this variant (Variation ID: 37943). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 30, 2016)
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criteria provided, single submitter
Method: clinical testing
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{Breast-ovarian cancer, familial, 2}
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000593745.1
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
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Pathogenic
(Oct 12, 2018)
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criteria provided, single submitter
Method: clinical testing
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Familial breast-ovarian cancer 2
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434850.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
The c.5073dupA (p.Trp1692Metfs*3) variant in the BRCA2 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple patients … (more)
The c.5073dupA (p.Trp1692Metfs*3) variant in the BRCA2 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple patients with breast cancer or ovarian cancer (PMID: 11179017, 14559878, 16683254, 26026974, 26641009). This variant has been seen 29 times in the Breast Cancer Information Core (BIC) dataset and is extremely rare in the general population according to the gnomAD. Therefore, this c.5073dupA (p.Trp1692Metfs*3) variant in the BRCA2 gene is classified as pathogenic. (less)
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Pathogenic
(Jan 29, 2020)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000210759.7
First in ClinVar: Feb 24, 2015 Last updated: Dec 19, 2017 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with BRCA2-related cancers and reported to occur de novo in at least one case (Sutter 2004, Marshall 2009, Laarabi 2011, Elalaoui 2013, de Juan 2015); Not observed at a significant frequency in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 5301dupA or 5301insA; This variant is associated with the following publications: (PMID: 25479140, 22866093, 28486781, 11179017, 14973102, 19796187, 26541979, 26026974, 25452441, 26064523, 14559878, 26787237, 26641009, 26681312, 23621226, 28814288, 16683254, 10923033, 22144684, 29555025, 28477318, 28724667, 29339979, 29907814, 26556299, 28993434, 26187060, 28176296, 30702160, 31060517, 31396961, 27741520, 29625052, 26689913, 31447099, 31263571, 32029870, 31948886) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Molecular Endocrinology Laboratory, Christian Medical College
Accession: SCV002004011.1
First in ClinVar: Oct 30, 2021 Last updated: Oct 30, 2021 |
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Pathogenic
(Feb 14, 2022)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512263.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate
Geographic origin: Brazil
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Pathogenic
(Nov 01, 2021)
|
criteria provided, single submitter
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515115.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
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Pathogenic
(Dec 01, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002533923.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
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Pathogenic
(Mar 16, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002579642.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 2
Sex: male
|
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Pathogenic
(Nov 29, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185634.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.5073dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 5073, causing a … (more)
The c.5073dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 5073, causing a translational frameshift with a predicted alternate stop codon (p.W1692Mfs*3). This mutation has been described in breast and ovarian cancer families of various ethnicities (Risch HA et al. Am. J. Hum. Genet. 2001 Mar;68:700-10; Suter NM et al. Cancer Epidemiol. Biomarkers Prev. 2004 Feb;13:181-9; Marshall M et al. Clin. Genet. 2009 Nov;76:427-30; de Juan I et al. Fam. Cancer. 2015 Dec;14:505-13; Hasmad HN et al. Gynecol. Oncol. 2016 May;141:318-22; Sandoval RL et al. PLoS One. 2021 Mar;16:e0247363). This alteration has also been identified in a pancreatic cancer patient (Grant RC et al. Gastroenterology. 2015 Mar;148:556-64). Of note, this alteration is also designated as 5301insA, 5302insA, and c.5066_5067insA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
|
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Pathogenic
(Nov 24, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556664.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
Comment:
The BRCA2 c.5073dupA variant is classified as Pathogenic (PVS1, PM2) This BRCA2 c.5073dupA variant is located in exon 11/27 and is predicted to cause a … (more)
The BRCA2 c.5073dupA variant is classified as Pathogenic (PVS1, PM2) This BRCA2 c.5073dupA variant is located in exon 11/27 and is predicted to cause a shift in the reading frame at codon 1692 (PVS1). The variant is rare in population databases (PM2). The variant has been reported in dbSNP (rs80359479) and has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 37943). (less)
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Pathogenic
(Jan 28, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000219346.5 First in ClinVar: Mar 29, 2015 Last updated: Mar 11, 2023 |
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Pathogenic
(Mar 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV004014935.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
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Pathogenic
(Nov 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2 Glioma susceptibility 3 Medulloblastoma Pancreatic cancer, susceptibility to, 2 Malignant tumor of prostate Fanconi anemia complementation group D1 Wilms tumor 1
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: yes
Allele origin:
germline
|
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili
Accession: SCV004121692.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Number of individuals with the variant: 1
Age: 40-49 years
Sex: female
Ethnicity/Population group: Latin
Geographic origin: Colombia
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Pathogenic
(Nov 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000292169.5
First in ClinVar: Jul 08, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant is also known as 5301insA, 5302insA, c.5066_5067insA and c.5073insA in the literature. This variant has been detected in over 20 individuals and families affected with breast, ovarian and fallopian tube cancer (PMID: 11179017, 11938448, 12181777, 14973102, 15131399, 16683254, 18819001, 19052777, 19796187, 21324516, 21465317, 23977390, 24333842, 24728189, 26026974, 26787237, 27741520, 28486781, 32022259, 33471991), an individual affected with pancreatic cancer (PMID: 25479140) and 2 unaffected carriers (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001899). This variant also has been observed with another pathogenic BRCA2 mutation in an individual affected with the recessive disease Fanconi anemia (PMID: 14559878). This variant has been identified in 4/230778 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001248275.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
BRCA2: PVS1, PM2:Supporting, PS4:Supporting
Number of individuals with the variant: 9
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Pathogenic
(Feb 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004845762.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant is also known as 5301insA, 5302insA, c.5066_5067insA and c.5073insA in the literature. This variant has been detected in over 20 individuals and families affected with breast, ovarian and fallopian tube cancer (PMID: 11179017, 11938448, 12181777, 14973102, 15131399, 16683254, 18819001, 19052777, 19796187, 21324516, 21465317, 23977390, 24333842, 24728189, 26026974, 26787237, 27741520, 28486781, 32022259, 33471991), an individual affected with pancreatic cancer (PMID: 25479140) and 2 unaffected carriers (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001899). This variant also has been observed with another pathogenic BRCA2 mutation in an individual affected with the recessive disease Fanconi anemia (PMID: 14559878). This variant has been identified in 4/230778 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 10
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Pathogenic
(Sep 16, 2018)
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no assertion criteria provided
Method: research
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not provided
Affected status: yes
Allele origin:
germline
|
Gharavi Laboratory, Columbia University
Accession: SCV000809446.1
First in ClinVar: Oct 01, 2018 Last updated: Oct 01, 2018 |
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Pathogenic
(Jul 01, 2021)
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no assertion criteria provided
Method: research
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Gastric cancer
Affected status: unknown
Allele origin:
germline
|
Laboratory for Genotyping Development, RIKEN
Accession: SCV002758297.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146530.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 14
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Near Eastern Mid East
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Denmark
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 6:
Number of individuals with the variant: 10
Ethnicity/Population group: Western European
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Malta
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Pathogenic
(Oct 03, 2012)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000054129.6
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2016 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587741.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591938.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA2 p.Trp1692MetfsX3 variant was identified in 10 of 5448 proband chromosomes (frequency: 0.002) from individuals or families with breast and ovarian cancer (Laarabi 2011, … (more)
The BRCA2 p.Trp1692MetfsX3 variant was identified in 10 of 5448 proband chromosomes (frequency: 0.002) from individuals or families with breast and ovarian cancer (Laarabi 2011, Lubinski 2004, Risch 2001, Suter 2004, Ottini 2009, de Juan 2015, Fernandes 2016, Hasmad 2016). It was also found as a de novo change in a patient who developed early onset breast cancer with no strong family history of the disease (Marshall 2009). The variant was identified in the following databases: dbSNP (ID: rs80359480) as "With Pathogenic allele", ClinVar (18x, pathogenic including review by expert panel ENIGMA), Clinvitae, COGR (3x, pathogenic), LOVD 3.0 (23x, affects function), BIC Database (29x, pathogenic), and ARUP Laboratories (pathogenic). The variant was also identified by our laboratory in 4 individuals with breast, ovarian, and pancreatic cancer. The variant was not found in Cosmic, MutDB, UMD-LSDB, or the Zhejiang University Database. The variant was not identified in the control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.5073dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1692 and leads to a premature stop codon at position 1694. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(Mar 04, 2021)
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no assertion criteria provided
Method: case-control
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Carcinoma of pancreas
Affected status: yes
Allele origin:
germline
|
CZECANCA consortium
Accession: SCV001593132.1
First in ClinVar: May 16, 2021 Last updated: May 16, 2021 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906275.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969070.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004243650.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
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not provided
(-)
|
no classification provided
Method: phenotyping only
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Breast-ovarian cancer, familial 2
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect, ClinGen
Accession: SCV001423223.1
First in ClinVar: Jul 19, 2020 Last updated: Jul 19, 2020 |
Comment:
Variant interpretted as Pathogenic and reported on 08-30-2017 by Lab or GTR ID 505849. GenomeConnect assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpretted as Pathogenic and reported on 08-30-2017 by Lab or GTR ID 505849. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Anxiety (present) , Depressivity (present) , Misalignment of teeth (present)
Indication for testing: Not Provided
Age: 20-29 years
Sex: female
Testing laboratory: Color Health, Inc
Date variant was reported to submitter: 2017-08-30
Testing laboratory interpretation: Pathogenic
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not provided
(-)
|
no classification provided
Method: phenotyping only
|
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect - Invitae Patient Insights Network
Accession: SCV001749677.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021 |
Comment:
Variant interpreted as Pathogenic and reported on 07-02-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report … (more)
Variant interpreted as Pathogenic and reported on 07-02-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Clinical Features:
Family history of cancer (present) , Family history (present)
Indication for testing: Family Testing
Age: 30-39 years
Sex: female
Testing laboratory: Invitae
Date variant was reported to submitter: 2018-07-02
Testing laboratory interpretation: Pathogenic
|
|
not provided
(-)
|
no classification provided
Method: literature only
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV002097628.2
First in ClinVar: Feb 20, 2022 Last updated: Oct 01, 2022 |
Comment:
Founder variant in Amish of Somerset County, Pennsylvania
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report. | Mauri G | World journal of surgical oncology | 2023 | PMID: 36998040 |
Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. | Adam MP | - | 2023 | PMID: 20301425 |
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis. | Sandoval RL | PloS one | 2021 | PMID: 33606809 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects. | Peixoto A | Frontiers in oncology | 2020 | PMID: 32850417 |
Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients. | Tedaldi G | Diagnostics (Basel, Switzerland) | 2020 | PMID: 32365798 |
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects. | Apostolou P | International journal of cancer | 2020 | PMID: 32022259 |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. | Gabaldó Barrios X | Familial cancer | 2017 | PMID: 28477318 |
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. | Meric-Bernstam F | Annals of oncology : official journal of the European Society for Medical Oncology | 2016 | PMID: 26787237 |
Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients. | Hasmad HN | Gynecologic oncology | 2016 | PMID: 26541979 |
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | Kwong A | Journal of medical genetics | 2016 | PMID: 26187060 |
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. | de Juan I | Familial cancer | 2015 | PMID: 26026974 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. | Grant RC | Gastroenterology | 2015 | PMID: 25479140 |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. | Conner JR | Gynecologic oncology | 2014 | PMID: 24333842 |
Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. | Phuah SY | PloS one | 2013 | PMID: 23977390 |
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. | Caputo S | Nucleic acids research | 2012 | PMID: 22144684 |
Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. | Laarabi FZ | Oncology letters | 2011 | PMID: 22866093 |
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report. | Farooq A | Journal of oncology | 2011 | PMID: 21559243 |
Expression of cancer testis antigens in human BRCA-associated breast cancers: potential targets for immunoprevention? | Adams S | Cancer immunology, immunotherapy : CII | 2011 | PMID: 21465317 |
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | Zhang S | Gynecologic oncology | 2011 | PMID: 21324516 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. | Infante M | Clinical genetics | 2010 | PMID: 19912264 |
Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. | Marshall M | Clinical genetics | 2009 | PMID: 19796187 |
Identification of common genetic variants that account for transcript isoform variation between human populations. | Zhang W | Human genetics | 2009 | PMID: 19052777 |
BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. | Ottini L | Breast cancer research and treatment | 2009 | PMID: 18819001 |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
Cancer variation associated with the position of the mutation in the BRCA2 gene. | Lubinski J | Familial cancer | 2004 | PMID: 15131399 |
BRCA1 and BRCA2 mutations in women from Shanghai China. | Suter NM | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2004 | PMID: 14973102 |
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. | Offit K | Journal of the National Cancer Institute | 2003 | PMID: 14559878 |
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. | Liede A | American journal of human genetics | 2002 | PMID: 12181777 |
BRCA mutations in Italian breast/ovarian cancer families. | Nedelcu R | European journal of human genetics : EJHG | 2002 | PMID: 11938448 |
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. | Risch HA | American journal of human genetics | 2001 | PMID: 11179017 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
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Text-mined citations for rs80359479 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.