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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variantsHongyan Li, Christoph Engel, Miguel de la Hoya, et al.
JAMA|January 26, 2012
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancerKelly L Bolton, Georgia Chenevix-Trench, Cindy Goh, et al.
Human Molecular Genetics|July 2, 2015
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorPaolo Peterlongo, Irene Catucci, Mara Colombo, et al.
British Journal of Cancer|April 19, 2023
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2Denise G O'Mahony, Susan J Ramus, Melissa C Southey, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 14, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer RiskLenka Stolarova, Petra Kleiblova, Petra Zemankova, et al.
Breast Cancer Research : BCR|November 13, 2016
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 womenTimothy R Rebbeck, Tara M Friebel, Nandita Mitra, et al.
Human Molecular Genetics|September 6, 2011
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriersDavid G Cox, Jacques Simard, Daniel Sinnett, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variantInge M M Lakeman, Alexandra J van den Broek, Juliën A M Vos, et al.
JAMA Oncology|July 3, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)Valentina Silvestri, Goska Leslie, Daniel R Barnes, et al.
Plos Genetics|November 10, 2010
Common genetic variants and modification of penetrance of BRCA2-associated breast cancerMia M Gaudet, Tomas Kirchhoff, Todd Green, et al.
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