Variant: rs45553935 

    present in Gene: BRCA1
    present in Chromosome: 17
    Position on Chromosome: 43057122
    Alleles of this Variant: A/C;G;T

rs45553935 in BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 PMID 25748678 2015 Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 22476429 2012 Mutation screening of RAD51C in high-risk breast and ovarian cancer families.

PMID 17308087 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

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 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 15172985 2004 Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

PMID 16267036 2005 Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

rs45553935 in BRCA1 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP S PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

PMID 29133208 2018 Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

PMID 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

rs45553935 in BRCA1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 15172985 2004 Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 26913838 2016 Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

PMID 17305420 2007 Functional impact of missense variants in BRCA1 predicted by supervised learning.

PMID 15385441 2004 Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

PMID 16267036 2005 Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

PMID 28283652 2017 BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

PMID 20378548 2010 Toward classification of BRCA1 missense variants using a biophysical approach.

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

PMID 23580280 2013 BRCA1: a missing link in the Fanconi anemia/BRCA pathway.

PMID 17308087 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

PMID 20516115 2010 Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

PMID 21965345 2011 Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

PMID 28781887 2016 Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

PMID 26219728 2016 Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

PMID 30055521 2018 Subsequent breast and high grade serous carcinomas after risk-reducing salpingo-oophorectomy in BRCA mutation carriers and patients with history of breast cancer.

PMID 25748678 2015 Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.

PMID 31347298 2019 Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

PMID 30765603 2019 Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

PMID 21447777 2011 A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

PMID 29712865 2018 Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

PMID 15235020 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

PMID 31341520 2019 Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.

rs45553935 in BRCA1 gene and Malignant neoplasm of breast PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

rs45553935 in BRCA1 gene and Neoplastic Syndromes, Hereditary PMID 15172985 2004 Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

PMID 15235020 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

PMID 17305420 2007 Functional impact of missense variants in BRCA1 predicted by supervised learning.

PMID 21447777 2011 A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

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

PMID 17308087 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

PMID 21965345 2011 Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

PMID 28283652 2017 BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

PMID 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.