VCV000052694.44 - ClinVar

NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)

Germline

Top reviewed classifications are shown here.

Submission summary:

19 submissions

19 submitters

6 conditions

Reviewed by expert panel

Pathogenic

Apr 2016 by Evidence-based…

for Breast-ovarian cancer, familial, susceptibility to, 2

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)

Variation ID: 52694 Accession: VCV000052694.44

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 13q13.1 13: 32379440 (GRCh38) [ NCBI UCSC ] 13: 32953577 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	May 1, 2024	Apr 22, 2016

HGVS

Nucleotide	Protein	Molecular consequence
NM_000059.4:c.8878C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_000050.3:p.Gln2960Ter	nonsense
NC_000013.11:g.32379440C>T
NC_000013.10:g.32953577C>T
NG_012772.3:g.68961C>T
LRG_293:g.68961C>T
LRG_293t1:c.8878C>T	LRG_293p1:p.Gln2960Ter
U43746.1:n.9106C>T

... more HGVS ... less HGVS

Protein change

Q2960*

Other names

9106C>T

Canonical SPDI

NC_000013.11:32379439:C:T

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

ClinGen: CA025859 dbSNP: rs80359140 VarSome

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
Gene	OMIM	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.
BRCA2		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	18967	19126

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.
Hereditary breast ovarian cancer syndrome	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Nov 19, 2023	RCV000045646.22
Breast-ovarian cancer, familial, susceptibility to, 2	Pathogenic (8)	reviewed by expert panel	Apr 22, 2016	RCV000077455.18
Hereditary cancer-predisposing syndrome	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Oct 17, 2022	RCV000162940.19
not provided	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Oct 13, 2020	RCV000223154.16
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic (1)	criteria provided, single submitter	Apr 2, 2020	RCV001310187.9
Familial cancer of breast	Pathogenic (1)	criteria provided, single submitter	Oct 20, 2023	RCV003473426.1

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.
Pathogenic (Apr 22, 2016)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) Method: curation	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: unknown Allele origin: germline	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Accession: SCV000282462.1 First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016	Comment: Variant allele predicted to encode a truncated non-functional protein.
Pathogenic (Nov 03, 2014)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Michigan Medical Genetics Laboratories, University of Michigan Accession: SCV000196020.1 First in ClinVar: Sep 27, 2014 Last updated: Sep 27, 2014	Tissue: Blood
Pathogenic (Apr 17, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics and Genomics, Karolinska University Hospital Accession: SCV001450053.1 First in ClinVar: Dec 11, 2020 Last updated: Dec 11, 2020	Number of individuals with the variant: 1
Pathogenic (Sep 22, 2020)	criteria provided, single submitter (Quest Diagnostics criteria) Method: clinical testing	not provided Affected status: unknown Allele origin: unknown	Quest Diagnostics Nichols Institute San Juan Capistrano Accession: SCV000600828.2 First in ClinVar: Sep 28, 2017 Last updated: Jan 03, 2022	Publications: PubMed (17) PubMed: 10449599‚ 24312913‚ 14531499‚ 18821011‚ 25863477‚ 16982466‚ 16764716‚ 17224268‚ 23165508‚ 26852130‚ 27425403‚ 28091860‚ 29161300‚ 29339979‚ 29446198‚ 30606148‚ 30702160 Comment: This nonsense variant causes the premature termination of BRCA2 protein synthesis. It has been reported in hereditary breast and/or ovarian cancer in the published literature … (more) This nonsense variant causes the premature termination of BRCA2 protein synthesis. It has been reported in hereditary breast and/or ovarian cancer in the published literature (PMIDs: 27425403 (2016), 26852130 (2016), 25863477 (2015), 24312913 (2013), 23165508 (2013), 18821011 (2009), 17224268 (2007), 16982466 (2006), 16764716 (2006), 14531499 (2003), 10449599 (1999), 28091860 (2017), 29161300 (2017), 29339979 (2018), 29446198 (2018), 30606148 (2019), and 30702160 (2019)). This variant has not been reported in large, multi-ethnic general populations. Therefore, the variant is classified as pathogenic. (less)
Pathogenic (Jul 01, 2015)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: yes Allele origin: germline	Department of Medical Genetics, Oslo University Hospital Accession: SCV000605642.3 First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022	Number of individuals with the variant: 1
Pathogenic (Jan 15, 2016)	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 2 Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV000488176.2 First in ClinVar: Nov 05, 2016 Last updated: Dec 24, 2022	Publications: PubMed (1) PubMed: 16764716
Pathogenic (Oct 13, 2020)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000278883.11 First in ClinVar: May 29, 2016 Last updated: Mar 04, 2023	Comment: Nonsense 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) Nonsense 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 a personal or family history consistent with pathogenic variants in this gene (Santarosa 1999, Fruscalzo 2006, Miolo 2006, Manoukian 2007, Barber 2013, Safra 2013); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 9106C>T; This variant is associated with the following publications: (PMID: 29907814, 18821011, 23165508, 26733283, 24131973, 27528623, 26852130, 29161300, 30606148, 25525159, 16764716, 26360800, 25341009, 10449599, 25863477, 24312913, 14531499, 17224268, 16982466, 28263838, 28091860, 29339979, 29446198, 28176296, 30702160, 31825140, 30787465, 30613976) (less)
Pathogenic (Oct 20, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Familial cancer of breast Affected status: unknown Allele origin: unknown	Baylor Genetics Accession: SCV004211829.1 First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023
Pathogenic (Oct 17, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Color Diagnostics, LLC DBA Color Health Accession: SCV000684004.4 First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024	Publications: PubMed (9) PubMed: 16982466‚ 17224268‚ 23165508‚ 28091860‚ 29446198‚ 30606148‚ 32438681‚ 33471991‚ 35281878 Comment: This variant changes 1 nucleotide in exon 22 of the BRCA2 gene, creating a premature translation stop signal. This variant is also known as 9106C>T … (more) This variant changes 1 nucleotide in exon 22 of the BRCA2 gene, creating a premature translation stop signal. This variant is also known as 9106C>T in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in more than 10 individuals affected with breast or ovarian cancer (PMID: 16982466, 17224268, 23165508, 28091860, 30606148, 32438681, 33471991, 35281878) and has been identified in 38 families among the CIMBA participants (PMID: 29446198). 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)
Pathogenic (Nov 19, 2023)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000073659.10 First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024	Publications: PubMed (8) PubMed: 20104584‚ 10449599‚ 14531499‚ 16764716‚ 18821011‚ 24312913‚ 25863477‚ 26852130 Comment: This sequence change creates a premature translational stop signal (p.Gln2960) 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.Gln2960) 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/or ovarian cancer (PMID: 10449599, 14531499, 16764716, 18821011, 24312913, 25863477, 26852130). This variant is also known as 9106C>T. ClinVar contains an entry for this variant (Variation ID: 52694). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (May 05, 2017)	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) Method: clinical testing	Hereditary breast ovarian cancer syndrome Affected status: unknown Allele origin: germline	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV000695185.1 First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017	Publications: PubMed (7) PubMed: 10449599‚ 25863477‚ 14531499‚ 17224268‚ 18821011‚ 16764716‚ 24312913 Comment: Variant summary: The BRCA2 c.8878C>T (p.Gln2960X) 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.8878C>T (p.Gln2960X) 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.8902_8913delinsTCCC, p.Thr2968fsX47; c.8904delC, p.Val2969fsX7; c.8930delA, p.Tyr2977fsX11; c.8961_8964delGAGT, p.Ser2988fsX12). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120540 control chromosomes. This variant was reported in multiple individuals affected with HBOC with clear segregation with the disease (Aretini, 2003; Santarosa, 1999; Miolo, 2006) The vaiant is suspected to be a founder mutation in Italian population (Miolo, 2006). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
Pathogenic (Apr 02, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 1 Affected status: yes Allele origin: germline	Department of Molecular Diagnostics, Institute of Oncology Ljubljana Accession: SCV001499782.1 First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021
Pathogenic (Oct 02, 2015)	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) 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: SCV000327982.4 First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022
Pathogenic (Jul 02, 2018)	criteria provided, single submitter (Mendelics Assertion Criteria 2017) Method: clinical testing	Hereditary breast and ovarian cancer syndrome Affected status: unknown Allele origin: unknown	Mendelics Accession: SCV000838887.2 First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022
Pathogenic (Aug 02, 2022)	criteria provided, single submitter (Ambry Variant Classification Scheme 2023) Method: clinical testing	Hereditary cancer-predisposing syndrome Affected status: unknown Allele origin: germline	Ambry Genetics Accession: SCV000213427.7 First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024	Publications: PubMed (7) PubMed: 10449599‚ 16764716‚ 17224268‚ 18821011‚ 27425403‚ 28091860‚ 29161300 Comment: The p.Q2960* pathogenic mutation (also known as c.8878C>T), located in coding exon 21 of the BRCA2 gene, results from a C to T substitution at … (more) The p.Q2960* pathogenic mutation (also known as c.8878C>T), located in coding exon 21 of the BRCA2 gene, results from a C to T substitution at nucleotide position 8878. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This mutation has been identified in multiple families with hereditary breast and ovarian cancer syndrome (Santarosa M et al. Int. J. Cancer. 1999 Sep;83:5-9; Miolo G et al. BMC Cancer. 2006 Jun;6:156; Manoukian S et al. Eur. J. Cancer 2007 Feb;43:601-6; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Alemar B et al. Cancer Genet. 2016 Sep;209:417-422). 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)
Pathogenic (Jan 31, 2014)	no assertion criteria provided Method: research	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: SCV000587974.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017
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: SCV002588929.1 First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Pathogenic (May 29, 2002)	no assertion criteria provided Method: clinical testing	Breast-ovarian cancer, familial 2 Affected status: yes Allele origin: germline	Breast Cancer Information Core (BIC) (BRCA2) Accession: SCV000147480.1 First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014	Observation 1: Number of individuals with the variant: 1 Observation 2: Number of individuals with the variant: 1 Geographic origin: Western European Observation 3: Number of individuals with the variant: 6 Ethnicity/Population group: Caucasian Geographic origin: Italy Observation 4: Number of individuals with the variant: 2 Ethnicity/Population group: Western European
Pathogenic (Jan 08, 2007)	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: SCV000109253.2 First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014
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Comment:

This nonsense variant causes the premature termination of BRCA2 protein synthesis. It has been reported in hereditary breast and/or ovarian cancer in the published literature (PMIDs: 27425403 (2016), 26852130 (2016), 25863477 (2015), 24312913 (2013), 23165508 (2013), 18821011 (2009), 17224268 (2007), 16982466 (2006), 16764716 (2006), 14531499 (2003), 10449599 (1999), 28091860 (2017), 29161300 (2017), 29339979 (2018), 29446198 (2018), 30606148 (2019), and 30702160 (2019)). This variant has not been reported in large, multi-ethnic general populations. Therefore, the variant is classified as pathogenic.

Comment:

Nonsense 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 a personal or family history consistent with pathogenic variants in this gene (Santarosa 1999, Fruscalzo 2006, Miolo 2006, Manoukian 2007, Barber 2013, Safra 2013); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 9106C>T; This variant is associated with the following publications: (PMID: 29907814, 18821011, 23165508, 26733283, 24131973, 27528623, 26852130, 29161300, 30606148, 25525159, 16764716, 26360800, 25341009, 10449599, 25863477, 24312913, 14531499, 17224268, 16982466, 28263838, 28091860, 29339979, 29446198, 28176296, 30702160, 31825140, 30787465, 30613976)

Comment:

This variant changes 1 nucleotide in exon 22 of the BRCA2 gene, creating a premature translation stop signal. This variant is also known as 9106C>T in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in more than 10 individuals affected with breast or ovarian cancer (PMID: 16982466, 17224268, 23165508, 28091860, 30606148, 32438681, 33471991, 35281878) and has been identified in 38 families among the CIMBA participants (PMID: 29446198). 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.

Comment:

This sequence change creates a premature translational stop signal (p.Gln2960*) 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/or ovarian cancer (PMID: 10449599, 14531499, 16764716, 18821011, 24312913, 25863477, 26852130). This variant is also known as 9106C>T. ClinVar contains an entry for this variant (Variation ID: 52694). For these reasons, this variant has been classified as Pathogenic.

Comment:

Variant summary: The BRCA2 c.8878C>T (p.Gln2960X) 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.8902_8913delinsTCCC, p.Thr2968fsX47; c.8904delC, p.Val2969fsX7; c.8930delA, p.Tyr2977fsX11; c.8961_8964delGAGT, p.Ser2988fsX12). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120540 control chromosomes. This variant was reported in multiple individuals affected with HBOC with clear segregation with the disease (Aretini, 2003; Santarosa, 1999; Miolo, 2006) The vaiant is suspected to be a founder mutation in Italian population (Miolo, 2006). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

Comment:

The p.Q2960* pathogenic mutation (also known as c.8878C>T), located in coding exon 21 of the BRCA2 gene, results from a C to T substitution at nucleotide position 8878. This changes the amino acid from a glutamine to a stop codon within coding exon 21. This mutation has been identified in multiple families with hereditary breast and ovarian cancer syndrome (Santarosa M et al. Int. J. Cancer. 1999 Sep;83:5-9; Miolo G et al. BMC Cancer. 2006 Jun;6:156; Manoukian S et al. Eur. J. Cancer 2007 Feb;43:601-6; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Alemar B et al. Cancer Genet. 2016 Sep;209:417-422). 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.

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.	Zong H	Journal of Cancer	2022	PMID: 35281878
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
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.	Santonocito C	Cancers	2020	PMID: 32438681
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.	Bhaskaran SP	International journal of cancer	2019	PMID: 30702160
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.	Cotrim DP	BMC cancer	2019	PMID: 30606148
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
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?	Alemar B	PloS one	2017	PMID: 29161300
Retesting BRCA1/BRCA2 mutation negative male breast cancer patients using next generation sequencing technologies.	Rizzolo P	Breast cancer research and treatment	2017	PMID: 28091860
Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.	Alemar B	Cancer genetics	2016	PMID: 27425403
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.	Cini G	BMC medical genetics	2016	PMID: 26852130
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
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.	Karami F	BioMed research international	2013	PMID: 24312913
Secondary mutations in BRCA2 associated with clinical resistance to a PARP inhibitor.	Barber LJ	The Journal of pathology	2013	PMID: 23165508
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
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.	Papi L	Breast cancer research and treatment	2009	PMID: 18821011
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.	Manoukian S	European journal of cancer (Oxford, England : 1990)	2007	PMID: 17224268
Four primary malignancies successively occurred in a BRCA2 mutation carrier: a case report.	Fruscalzo A	Cancer investigation	2006	PMID: 16982466
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.	Miolo G	BMC cancer	2006	PMID: 16764716
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.	Aretini P	Breast cancer research and treatment	2003	PMID: 14531499
BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy.	Santarosa M	International journal of cancer	1999	PMID: 10449599
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Text-mined citations for rs80359140 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 03, 2024

ClinVar Genomic variation as it relates to human health

NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs80359140 ...