ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)
Variation ID: 37960 Accession: VCV000037960.56
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32339699-32339700 (GRCh38) [ NCBI UCSC ] 13: 32913836-32913837 (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 Sep 27, 2014 Jun 17, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.5351dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Asn1784fs frameshift NM_000059.3:c.5351dupA NC_000013.11:g.32339706dup NC_000013.10:g.32913843dup NG_012772.3:g.29227dup LRG_293:g.29227dup LRG_293t1:c.5351dup U43746.1:n.5579_5580insA - Protein change
- N1784fs
- Other names
- 5579insA
- Canonical SPDI
- NC_000013.11:32339699: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 |
18935 | 19094 |
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 (9) |
reviewed by expert panel
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Sep 8, 2016 | RCV000031541.23 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Feb 6, 2024 | RCV000044642.26 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 20, 2023 | RCV000131977.22 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
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Jan 21, 2024 | RCV000195402.23 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785592.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 2, 2020 | RCV001310158.9 | |
Pathogenic (1) |
no assertion criteria provided
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Aug 8, 2021 | RCV001554264.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 7, 2021 | RCV001798046.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 14, 2023 | RCV003473186.2 |
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
(Sep 08, 2016)
|
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: SCV000300862.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(May 02, 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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV004563648.1
First in ClinVar: Feb 20, 2024 Last updated: Feb 20, 2024 |
Comment:
The BRCA2 c.5351dup; p.Asn1784LysfsTer3 variant (rs80359507), also known as 5579insA, is reported in the literature in numerous individuals with breast and ovarian cancer and has … (more)
The BRCA2 c.5351dup; p.Asn1784LysfsTer3 variant (rs80359507), also known as 5579insA, is reported in the literature in numerous individuals with breast and ovarian cancer and has been described as a founder mutation in the Dutch population (Jakimovska 2018, Verhoog 1999, Verhoog 2001, Walsh 2011). This variant is also reported in ClinVar (Variation ID: 37960) and is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on the available information, this variant is considered to be pathogenic. References: Jakimovska M et al. BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. Breast Cancer Res Treat. 2018 Apr;168(3):745-753. PMID: 29335924. Verhoog LC et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol. 1999 Nov;17(11):3396-402. doi: 10.1200/JCO.1999.17.11.3396. PMID: 10550133. Verhoog LC et al. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer. 2001 Nov;37(16):2082-90. PMID: 11597388. Walsh T et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. PMID: 22006311. (less)
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Pathogenic
(Dec 13, 2021)
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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
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Ambry Genetics
Accession: SCV000187035.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.5351dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 5351, causing a … (more)
The c.5351dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 5351, causing a translational frameshift with a predicted alternate stop codon (p.N1784Kfs*3). This mutation has been reported in multiple families with breast and/or ovarian cancer (Verhoog LC et al. J. Clin. Oncol. 1999 Nov;17:3396-402; Peelen T et al. Br. J. Cancer. 2000 Jan;82:151-6; Spitzer E et al. Int. J. Cancer. 2000 Feb;85:474-81; van der Hout AH et al. Hum. Mutat. 2006 Jul;27:654-66; Stegel V et al. BMC Med. Genet. 2011 Jan;12:9; Walsh T et al. Proc. Natl. Acad. Sci. U.S.A. 2011 Nov;108:18032-7; Kang E et al. Breast Cancer Res. Treat. 2015 May;151:157-68; Jakimovska M et al. Breast Cancer Res. Treat. 2018 Apr;168:745-753), and has been described as a Dutch founder mutation based on haplotype analysis (Neuhausen SL et al. Am. J. Hum. Genet. 1998 Jun;62:1381-8; Janaviius R. EPMA J. 2010 Sep;1:397-412). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Of note, this alteration is also designated as 5579insA and 5573insA 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)
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Pathogenic
(Jan 31, 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: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000677683.2
First in ClinVar: Nov 05, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(Dec 09, 2022)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: no
Allele origin:
germline
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV002762802.2
First in ClinVar: Dec 17, 2022 Last updated: Feb 25, 2023 |
Comment:
PVS1, PS4_STR PM2_SUP
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Pathogenic
(Feb 22, 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: SCV004238730.1
First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 14, 2023)
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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: SCV004211883.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Apr 21, 2016)
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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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Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000267780.1
First in ClinVar: Oct 19, 2014 Last updated: Oct 19, 2014 |
Tissue: Blood
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Pathogenic
(Apr 18, 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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Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000586959.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
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Pathogenic
(Aug 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694864.2
First in ClinVar: Dec 26, 2017 Last updated: Sep 14, 2020 |
Comment:
Variant summary: BRCA2 c.5351dupA (p.Asn1784LysfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA2 c.5351dupA (p.Asn1784LysfsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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. The variant was absent in 250394 control chromosomes. c.5351dupA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Neuhausen_1998, vanderHout_2006, Stegel_2011, Solano_2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 06, 2021)
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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: SCV000210764.8
First in ClinVar: Feb 24, 2015 Last updated: Apr 17, 2019 |
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 breast and ovarian cancer and is considered a founder pathogenic variant in individuals of Dutch ancestry (Verhoog 1999, Peelen 2000, Spitzer 2000, Janavicius 2010, Walsh 2011, Kang 2015); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as 5579insA; This variant is associated with the following publications: (PMID: 23199084, 17591843, 11506493, 23364291, 28127413, 21190077, 28918466, 29084914, 25863477, 10638982, 21232165, 10550133, 22006311, 15010701, 25256924, 10699917, 10451700, 25103822, 27425403, 9585613, 29907814, 16683254, 30103829, 29335924, 30186769, 30702160, 33067490, 31589614, 32733560) (less)
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Pathogenic
(Mar 07, 2021)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043179.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
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Pathogenic
(Jun 24, 2018)
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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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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000889063.2
First in ClinVar: Dec 06, 2016 Last updated: Jan 03, 2022 |
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Pathogenic
(Feb 06, 2024)
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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: SCV004243041.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Nov 20, 2023)
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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
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000292171.6
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 also known … (more)
This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is also known as 5579insA and 5573insA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in multiple individuals and families affected with breast and/or ovarian cancer (PMID: 9585613, 10638982, 11597388, 21232165, 22006311, 25863477, 29084914, 29335924) and is reported as a founder mutation in the Netherlands (PMID: 9585613, 11597388). This variant has not been identified 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
(Jan 21, 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
|
Invitae
Accession: SCV000072655.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Asn1784Lysfs*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.Asn1784Lysfs*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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 10550133, 21232165, 22006311, 25863477). This variant is also known as 5579insA and 5579dupA. ClinVar contains an entry for this variant (Variation ID: 37960). For these reasons, this variant has been classified as Pathogenic. (less)
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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
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499736.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327205.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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: SCV000587764.1 First in ClinVar: Apr 16, 2017 Last updated: Apr 16, 2017 |
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Pathogenic
(Aug 08, 2021)
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no assertion criteria provided
Method: clinical testing
|
Breast carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
Accession: SCV001774867.1
First in ClinVar: Aug 14, 2021 Last updated: Aug 14, 2021 |
Age: 30-39 years
Sex: female
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Pathogenic
(Feb 16, 2011)
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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: SCV000054146.5
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(Jul 24, 2014)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: unknown
Allele origin:
germline
|
Pathway Genomics
Accession: SCV000189897.1
First in ClinVar: Oct 19, 2014 Last updated: Oct 19, 2014 |
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline,
somatic,
unknown
|
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146603.2
First in ClinVar: Apr 01, 2014 Last updated: Oct 19, 2014 |
Observation 1:
Number of individuals with the variant: 6
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Uruguay
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 4:
Number of individuals with the variant: 4
Ethnicity/Population group: Western European
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, African, Latin America
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Ashkenazi
Observation 7:
Number of individuals with the variant: 1
Geographic origin: Sweden
Observation 8:
Number of individuals with the variant: 1
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Pathogenic
(Dec 01, 2018)
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no assertion criteria provided
Method: research
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Ovarian neoplasm
Affected status: yes
Allele origin:
somatic
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000924167.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
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: SCV000591963.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001744723.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
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: SCV001906132.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Pathogenic
(Aug 26, 2022)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV002588884.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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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 |
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BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. | Jakimovska M | Breast cancer research and treatment | 2018 | PMID: 29335924 |
Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer. | Labidi-Galy SI | Clinical cancer research : an official journal of the American Association for Cancer Research | 2018 | PMID: 29084914 |
Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice. | Solano AR | Oncotarget | 2016 | PMID: 28947987 |
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | Kang E | Breast cancer research and treatment | 2015 | PMID: 25863477 |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. | Walsh T | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 22006311 |
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. | Stegel V | BMC medical genetics | 2011 | PMID: 21232165 |
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
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 |
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 |
Founder mutations among the Dutch. | Zeegers MP | European journal of human genetics : EJHG | 2004 | PMID: 15010701 |
Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. | Spitzer E | International journal of cancer | 2000 | PMID: 10699917 |
Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families. | Peelen T | British journal of cancer | 2000 | PMID: 10638982 |
Survival in hereditary breast cancer associated with germline mutations of BRCA2. | Verhoog LC | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 1999 | PMID: 10550133 |
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. | Neuhausen SL | American journal of human genetics | 1998 | PMID: 9585613 |
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Text-mined citations for rs80359507 ...
HelpRecord last updated Aug 25, 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.