ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
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.6468_6469del (p.Gln2157fs)
Variation ID: 38047 Accession: VCV000038047.54
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 13q13.1 13: 32340817-32340818 (GRCh38) [ NCBI UCSC ] 13: 32914954-32914955 (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 Apr 15, 2024 Apr 22, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.6468_6469del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Gln2157fs frameshift NM_000059.3:c.6468_6469delTC NC_000013.11:g.32340817TC[3] NC_000013.10:g.32914954TC[3] NG_012772.3:g.30338TC[3] LRG_293:g.30338TC[3] U43746.1:n.6696_6697delTC - Protein change
- Q2157fs
- Other names
- 6690delTC
- 6696_6697delTC
- 6696delTC
- Canonical SPDI
- NC_000013.11:32340816:TCTCTCTC:TCTCTC
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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
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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 |
18445 | 18602 |
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 (6) |
reviewed by expert panel
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Apr 22, 2016 | RCV000031629.19 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Jan 18, 2024 | RCV000044965.30 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Aug 30, 2023 | RCV000131035.18 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Dec 1, 2022 | RCV000160302.27 | |
Pathogenic (1) |
no assertion criteria provided
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- | RCV000771024.10 | |
Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2018 | RCV000785368.10 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 2, 2020 | RCV001310130.9 | |
Pathogenic (1) |
no assertion criteria provided
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Jul 1, 2021 | RCV003162278.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 10, 2023 | RCV003473202.1 |
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. |
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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: SCV000282426.1
First in ClinVar: Sep 27, 2014 Last updated: Sep 27, 2014 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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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: SCV000605800.3
First in ClinVar: Aug 27, 2017 Last updated: Jul 03, 2020 |
Comment:
The p.Gln2157IlefsX18 variant in BRCA2 has been reported in >30 individuals with BRCA2-associated cancers (Vietri 2012, Ghiorzo 2012, Manoukian 2007, Gao 2000, Veschi 2009, Papi … (more)
The p.Gln2157IlefsX18 variant in BRCA2 has been reported in >30 individuals with BRCA2-associated cancers (Vietri 2012, Ghiorzo 2012, Manoukian 2007, Gao 2000, Veschi 2009, Papi 2007, Breast Cancer Information Core (BIC) database) and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 2157 and leads to a premature termination codon 18 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 individuals with hereditary breast and ovarian cancer (HBOC). In addition, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282426.1). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner based upon the predicted impact to the protein. ACMG/AMP Criteria applied: PVS1, PS4, PM2. (less)
Number of individuals with the variant: 1
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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: SCV001499678.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Mar 07, 2021)
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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: SCV000694976.2
First in ClinVar: Dec 26, 2017 Last updated: Mar 19, 2021 |
Comment:
Variant summary: BRCA2 c.6468_6469delTC (p.Gln2157IlefsX18) 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.6468_6469delTC (p.Gln2157IlefsX18) 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 229584 control chromosomes. c.6468_6469delTC has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Gayther_1997, Krainer_1997, Ottini_2000, Ottini_2003, Marroni_2004, Machakova_2008, Liede_2002). These data indicate that the variant is very likely to be associated with disease. Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(May 20, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002536239.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Pathogenic
(Jun 11, 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: SCV000210781.14
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
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 several individuals with hereditary breast and ovarian cancer (Ottini 2000, Ottini 2003, Manoukian 2007, Veschi 2007, Papi 2009, Arai 2017); 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 6696delTC; This variant is associated with the following publications: (PMID: 17591842, 17513806, 31512090, 10323242, 8988179, 23096105, 21989927, 17224268, 15024741, 18489799, 26187060, 18821011, 26315209, 25007954, 28152038, 29061375, 29176636, 29907814, 28724667, 30720863, 29506128, 30702160, 30322717, 31528241, 32058061, 31214711, 27535533, 11056688, 12543786) (less)
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Pathogenic
(Oct 10, 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: SCV004211884.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Dec 01, 2022)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002822072.8
First in ClinVar: Jan 21, 2023 Last updated: Apr 15, 2024 |
Comment:
BRCA2: PVS1, PM2
Number of individuals with the variant: 1
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Pathogenic
(Jan 29, 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: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000575754.1
First in ClinVar: May 07, 2017 Last updated: May 07, 2017 |
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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: SCV000296828.3
First in ClinVar: Jul 31, 2016 Last updated: May 04, 2020 |
Comment:
This variant is a 2 bp deletion at amino acid residue 2156 of the BRCA2 gene. It results in a frame-shift creating an unrecognizable protein … (more)
This variant is a 2 bp deletion at amino acid residue 2156 of the BRCA2 gene. It results in a frame-shift creating an unrecognizable protein after amino acid 2157 and a new stop codon 17 amino acid residues later, thus resulting in a truncated protein. (less)
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Pathogenic
(Aug 17, 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: SCV000185965.7
First in ClinVar: Aug 06, 2014 Last updated: Nov 29, 2022 |
Comment:
The c.6468_6469delTC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at positions 6468 to 6469, … (more)
The c.6468_6469delTC pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at positions 6468 to 6469, causing a translational frameshift with a predicted alternate stop codon (p.Q2157Ifs*18). This alteration has been reported in multiple individuals and families with breast and/or ovarian cancer, including male breast cancer (Gayther SA et al. Nat. Genet. 1997 Jan;15:103-5; Li SS et al. Hum. Genet. 1999 Mar;104:201-4; Ottini L et al. Breast Cancer Res. 2000 Mar;2:307-10; Moslehi R et al. Am. J. Hum. Genet. 2000 Apr;66:1259-72; Gao Q et al. Hum. Genet. 2000 Aug;107:186-91; Ottini L et al. Cancer Res. 2003 Jan;63:342-7; Veschi S et al. Ann. Oncol. 2007 Jun;18 Suppl 6:vi86-92; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504; Ghiorzo P et al. Fam. Cancer 2012 Mar;11:41-7; Vietri MT et al. Clin. Chem. Lab. Med. 2012 Dec;50:2171-80; Kwong A et al. J. Med. Genet. 2016 Jan;53:15-23). Of note, this alteration is also designated as 6696delTC in the 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
(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: SCV000327437.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 02, 2018)
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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:
unknown
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Mendelics
Accession: SCV000838840.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 04, 2021)
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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: SCV000887882.4
First in ClinVar: Mar 13, 2019 Last updated: Jan 06, 2024 |
Comment:
This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals affected with breast cancer and pancreatic … (more)
This frameshift variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals affected with breast cancer and pancreatic cancer in the published literature (PMID: 8988179 (1997), 23096105 (2012), 30702160 (2019), 30322717 (2018), 30720863 (2019), 29506128 (2018), 28724667 (2017)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Aug 30, 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: SCV000683785.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 2 nucleotides in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 2 nucleotides 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 c.6696_6697delTC and 6696delTC in the literature. This variant has been reported in many individuals affected with breast and/or ovarian cancer, prostate cancer, or pancreatic cancer (PMID: 33471991, 31214711, 30287823, 23096105, 21989927, 17591842, 17513806, 17224268, 15024741, 12543786, 12181777, 11056688, 11030417, 10739756). This variant has been reported in families with suspected hereditary breast and ovarian cancer syndrome, including 52 families among the CIMBA participants (PMID: 31528241, 29446198, 18821011, 18489799, 15340362, 10323242). 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 18, 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: SCV000072978.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln2157Ilefs*18) 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.Gln2157Ilefs*18) 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, ovarian and uterine cancer (PMID: 8988179, 17513806, 17591842, 21989927, 23096105). This variant is also known as 6690delTC and 6696delTC. ClinVar contains an entry for this variant (Variation ID: 38047). For these reasons, this variant has been classified as Pathogenic. (less)
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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
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BRCAlab, Lund University
Accession: SCV004243720.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Pathogenic
(Aug 27, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000054236.5
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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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
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587851.1 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: research
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Colorectal cancer
Affected status: yes
Allele origin:
germline
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Center for Studies on Hereditary Cancer, University of Bologna
Accession: SCV000902520.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
Number of individuals with the variant: 2
Sex: female
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Testing laboratory: Univeristy of Bologna, Medical Genetics Unit; Fox Chase Cancer Center
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Pathogenic
(Dec 01, 2018)
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no assertion criteria provided
Method: research
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Neoplasm of ovary
Affected status: yes
Allele origin:
somatic
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923939.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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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:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592056.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Number of individuals with the variant: 1
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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
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Laboratory for Genotyping Development, RIKEN
Accession: SCV002758338.1
First in ClinVar: Apr 15, 2023 Last updated: Apr 15, 2023 |
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not provided
(-)
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no classification provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline,
unknown
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Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000146867.2
First in ClinVar: Apr 01, 2014 Last updated: Sep 27, 2014 |
Observation 1:
Number of individuals with the variant: 7
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: African
Observation 3:
Number of individuals with the variant: 2
Ethnicity/Population group: African
Geographic origin: Eritrean
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Czech Republic
Observation 5:
Number of individuals with the variant: 4
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European, Polish
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Italian
Observation 8:
Number of individuals with the variant: 5
Ethnicity/Population group: Western European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Italian
Observation 10:
Number of individuals with the variant: 1
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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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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer. | Usui Y | The New England journal of medicine | 2023 | PMID: 36988593 |
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 |
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. | Momozawa Y | Journal of the National Cancer Institute | 2020 | PMID: 31214711 |
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study. | Rashid MU | Hereditary cancer in clinical practice | 2019 | PMID: 31528241 |
Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. | Deng M | International journal of cancer | 2019 | PMID: 30720863 |
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 |
Germline pathogenic variants identified in women with ovarian tumors. | Carter NJ | Gynecologic oncology | 2018 | PMID: 30322717 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. | Lowery MA | Journal of the National Cancer Institute | 2018 | PMID: 29506128 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | Kwong A | Journal of medical genetics | 2016 | PMID: 26187060 |
Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer. | Vietri MT | Clinical chemistry and laboratory medicine | 2012 | PMID: 23096105 |
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. | Ghiorzo P | Familial cancer | 2012 | PMID: 21989927 |
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 |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. | Machackova E | BMC cancer | 2008 | PMID: 18489799 |
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. | Veschi S | Annals of oncology : official journal of the European Society for Medical Oncology | 2007 | PMID: 17591842 |
Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. | Machado PM | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2007 | PMID: 17513806 |
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families. | Manoukian S | European journal of cancer (Oxford, England : 1990) | 2007 | PMID: 17224268 |
Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic. | Brooks GA | Cancer biology & therapy | 2006 | PMID: 16931905 |
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. | Marroni F | European journal of human genetics : EJHG | 2004 | PMID: 15340362 |
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. | Foretova L | Human mutation | 2004 | PMID: 15024741 |
BRCA1 and BRCA2 mutation status and tumor characteristics in male breast cancer: a population-based study in Italy. | Ottini L | Cancer research | 2003 | PMID: 12543786 |
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. | Liede A | American journal of human genetics | 2002 | PMID: 12181777 |
BRCA1 and BRCA2 mutations in central and southern Italian patients. | Ottini L | Breast cancer research : BCR | 2000 | PMID: 11056688 |
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. | Gao Q | Human genetics | 2000 | PMID: 11030417 |
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. | Moslehi R | American journal of human genetics | 2000 | PMID: 10739756 |
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan. | Li SS | Human genetics | 1999 | PMID: 10323242 |
Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. | Krainer M | The New England journal of medicine | 1997 | PMID: 9145678 |
Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. | Gayther SA | Nature genetics | 1997 | PMID: 8988179 |
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Text-mined citations for rs80359596 ...
HelpRecord last updated Apr 15, 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.