PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.
PMID 17308087 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.
PMID 19563646 2009 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.
PMID 17574969 2007 Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast.
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 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
PMID 21702907 2011 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
PMID 21356067 2011 Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
PMID 20516115 2010 Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
PMID 28265380 2017 "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer."
PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.
PMID 22889855 2012 BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
rs55770810 in
BRCA1 gene and
Malignant neoplasm of breast
PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.
PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
rs55770810 in
BRCA1 gene and
Neoplastic Syndromes, Hereditary
PMID 28831036 2017 BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
PMID 28477318 2017 Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
PMID 28324225 2017 Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.
PMID 21965345 2011 Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.
PMID 15235020 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.