Variant: rs81002899

present in Gene: BRCA2 present in Chromosome: 13 Position on Chromosome: 32326615 Alleles of this Variant: T/A;C;G

rs81002899 in BRCA2 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 31131967 2019 Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

rs81002899 in BRCA2 gene and Fanconi Anemia PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 26834852 2016 Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 26920070 2016 BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

PMID 21548014 2012 The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 15645491 2005 A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

rs81002899 in BRCA2 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 23893897 2013 Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

PMID 26920070 2016 BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.

PMID 12960223 2003 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 26834852 2016 Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 21548014 2012 The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

PMID 20927582 2011 Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15645491 2005 A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

rs81002899 in BRCA2 gene and Neoplastic Syndromes, Hereditary PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 16825431 2007 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

PMID 21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

PMID 11185744 2000 The BRCA2 genetic variant IVS7 + 2T-->G is a mutation.

PMID 15070707 2004 Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28831036 2017 BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 26834852 2016 Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.

PMID 26920070 2016 BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.