Variant: rs80357522

present in Gene: BRCA1 present in Chromosome: 17 Position on Chromosome: 43093570 Alleles of this Variant: TTTT/-;TT;TTT;TTTTT

rs80357522 in BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 7493024 1995 Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

rs80357522 in BRCA1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 24884479 2014 Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 7837387 1995 A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

PMID 8807330 1996 Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

PMID 7493024 1995 Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 26026974 2015 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

PMID 16455195 2007 BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 14517958 2003 Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.

PMID 18340530 2009 BRCA1 2080insA mutation in familial breast cancer.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

PMID 11179017 2001 Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

PMID 11956590 2002 Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.

PMID 17645508 2008 Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series.

PMID 21559243 2011 Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

PMID 25256238 2015 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

PMID 22970155 2012 Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

PMID 20727672 2010 Non-founder BRCA1 mutations in Russian breast cancer patients.

PMID 17688236 2007 Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 21702907 2011 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

PMID 21751003 2011 Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.

PMID 14760071 2004 MYC is amplified in BRCA1-associated breast cancers.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

rs80357522 in BRCA1 gene and Invasive Ductal Breast Carcinoma PMID 15145354 2004 Nonsense-mediated mRNA decay: terminating erroneous gene expression.

rs80357522 in BRCA1 gene and Neoplastic Syndromes, Hereditary PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 25256238 2015 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 27509926 2016 Breast Cancer in Pakistan a Critical Appraisal of the Situation Regarding Female Health and Where the Nation Stands?

PMID 28324225 2017 Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

PMID 7837387 1995 A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 27157322 2016 Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.

PMID 25884701 2015 A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

PMID 26026974 2015 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

PMID 8807330 1996 Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

PMID 7493024 1995 Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 22970155 2012 Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

PMID 21559243 2011 Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

PMID 21751003 2011 Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.

PMID 16905680 2007 Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 18340530 2009 BRCA1 2080insA mutation in familial breast cancer.

rs80357522 in BRCA1 gene and ovarian neoplasm PMID 15145354 2004 Nonsense-mediated mRNA decay: terminating erroneous gene expression.