Melchor L, Benitez J. The complex genetic landscape of familial breast cancer. Hum Genet. 2013;132(8):845–63.
Article
CAS
PubMed
Google Scholar
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266(5182):66–71.
Article
CAS
PubMed
Google Scholar
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789–92.
Article
CAS
PubMed
Google Scholar
Scalia-Wilbur J, Colins BL, Penson RT, Dizon DS. Breast Cancer Risk Assessment: Moving Beyond BRCA 1 and 2. Semin Radiat Oncol. 2016;26(1):3–8.
Article
PubMed
Google Scholar
Borresen AL, Andersen TI, Garber J, Barbier-Piraux N, Thorlacius S, Eyfjord J, et al. Screening for germ line TP53 mutations in breast cancer patients. Cancer Res. 1992;52(11):3234–6.
CAS
PubMed
Google Scholar
Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000;119(6):1447–53.
Article
CAS
PubMed
Google Scholar
Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, et al. Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am J Hum Genet. 1997;61(6):1254–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165–7.
Article
CAS
PubMed
Google Scholar
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38(11):1239–41.
Article
CAS
PubMed
Google Scholar
Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012;49(3):184–6.
Article
CAS
PubMed
Google Scholar
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011;43(9):879–82.
Article
CAS
PubMed
PubMed Central
Google Scholar
Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, et al. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002;31(1):55–9.
Article
CAS
PubMed
Google Scholar
Orr N, Lemnrau A, Cooke R, Fletcher O, Tomczyk K, Jones M, et al. Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nat Genet. 2012;44(11):1182–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Porhanova NV, Sokolenko AP, Sherina NY, Ponomariova DN, Tkachenko NN, Matsko DE, et al. Ovarian cancer patient with germline mutations in both BRCA1 and NBN genes. Cancer Genet Cytogenet. 2008;186(2):122–4.
Article
CAS
PubMed
Google Scholar
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38(8):873–5.
Article
CAS
PubMed
Google Scholar
Shamseddine A, Saleh A, Charafeddine M, Seoud M, Mukherji D, Temraz S, et al. Cancer trends in Lebanon: a review of incidence rates for the period of 2003–2008 and projections until 2018. Popul Health Metr. 2014;12(1):4.
Article
PubMed
PubMed Central
Google Scholar
El Saghir NS, Zgheib NK, Assi HA, Khoury KE, Bidet Y, Jaber SM, et al. BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer. Oncologist. 2015;20(4):357–64.
Article
PubMed
PubMed Central
Google Scholar
Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, et al. Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hered Cancer Clin Pract. 2012;10(1):7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sundquist M, Thorstenson S, Brudin L, Wingren S, Nordenskjold B. Incidence and prognosis in early onset breast cancer. Breast. 2002;11(1):30–5.
Article
CAS
PubMed
Google Scholar
Gracia-Aznarez FJ, Fernandez V, Pita G, Peterlongo P, Dominguez O, de la Hoya M, et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One. 2013;8(2):e55681.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer. 2009;115(10):2222–33.
Article
CAS
PubMed
PubMed Central
Google Scholar
Malone KE, Daling JR, Neal C, Suter NM, O'Brien C, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000;88(6):1393–402.
Article
CAS
PubMed
Google Scholar
Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Ben Dib A, Bignon YJ. BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. Int J Med Sci. 2008;5(4):197–202.
Article
CAS
PubMed
PubMed Central
Google Scholar
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
Article
CAS
PubMed
PubMed Central
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
PubMed
PubMed Central
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
Article
CAS
PubMed
PubMed Central
Google Scholar
Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, et al. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics. 2009;25(21):2744–50.
Article
CAS
PubMed
PubMed Central
Google Scholar
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1–9.
Article
CAS
PubMed
Google Scholar
Clarke L, Zheng-Bradley X, Smith R, Kulesha E, Xiao C, Toneva I, et al. The 1000 Genomes Project: data management and community access. Nat Methods. 2012;9(5):459–62.
Article
CAS
PubMed
PubMed Central
Google Scholar
Szabo C, Masiello A, Ryan JF, Brody LC. The breast cancer information core: database design, structure, and scope. Hum Mutat. 2000;16(2):123–31.
Article
CAS
PubMed
Google Scholar
Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat. 2005;26(2):63–8.
Article
CAS
PubMed
Google Scholar
Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, et al. COSMIC: exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res. 2015;43(Database issue):D805–811.
Article
PubMed
Google Scholar
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, et al. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012;33(1):2–7.
Article
CAS
PubMed
Google Scholar
De Brakeleer S, De Greve J, Loris R, Janin N, Lissens W, Sermijn E, et al. Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. Hum Mutat. 2010;31(3):E1175–1185.
Article
PubMed
Google Scholar
Smith A, Moran A, Boyd MC, Bulman M, Shenton A, Smith L, et al. Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet. 2007;44(1):10–5.
Article
CAS
PubMed
Google Scholar
Masciari S, Larsson N, Senz J, Boyd N, Kaurah P, Kandel MJ, et al. Germline E-cadherin mutations in familial lobular breast cancer. J Med Genet. 2007;44(11):726–31.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ewald IP, Ribeiro PL, Palmero EI, Cossio SL, Giugliani R, Ashton-Prolla P. Genomic rearrangements in BRCA1 and BRCA2: A literature review. Genet Mol Biol. 2009;32(3):437–46.
Article
CAS
PubMed
PubMed Central
Google Scholar
Marafie MJ, Al-Awadi S, Al-Mosawi F, Elshafey A, Al-Ali W, Al-Mulla F. Impact of 226C > T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing. Fam Cancer. 2009;8(4):289–98.
Article
CAS
PubMed
Google Scholar
Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, et al. Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet. 2007;16(9):1051–7.
Article
CAS
PubMed
Google Scholar
Sehl ME, Langer LR, Papp JC, Kwan L, Seldon JL, Arellano G, et al. Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer. Clin Cancer Res. 2009;15(6):2192–203.
Article
CAS
PubMed
PubMed Central
Google Scholar