{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:37:06Z","timestamp":1790127426447,"version":"4.0.1"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"DOI":"10.13039\/501100003286","name":"Kuwait Foundation for the Advancement of Sciences","doi-asserted-by":"publisher","award":["KFAS No. 2011-1302-06"],"award-info":[{"award-number":["KFAS No. 2011-1302-06"]}],"id":[{"id":"10.13039\/501100003286","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12920-017-0244-7","type":"journal-article","created":{"date-parts":[[2017,2,15]],"date-time":"2017-02-15T07:00:45Z","timestamp":1487142045000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["Next-generation sequencing in familial breast cancer patients from Lebanon"],"prefix":"10.1186","volume":"10","author":[{"given":"Nadine","family":"Jalkh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahraa","family":"Haidar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Khater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Atallah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makia J.","family":"Marafie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed R.","family":"Al-Mulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahd","family":"Al-Mulla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Megarbane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,2,15]]},"reference":[{"issue":"8","key":"244_CR1","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1007\/s00439-013-1299-y","volume":"132","author":"L Melchor","year":"2013","unstructured":"Melchor L, Benitez J. The complex genetic landscape of familial breast cancer. Hum Genet. 2013;132(8):845\u201363.","journal-title":"Hum Genet"},{"issue":"5182","key":"244_CR2","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"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\u201371.","journal-title":"Science"},{"issue":"6559","key":"244_CR3","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","volume":"378","author":"R Wooster","year":"1995","unstructured":"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\u201392.","journal-title":"Nature"},{"issue":"1","key":"244_CR4","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.semradonc.2015.09.004","volume":"26","author":"J Scalia-Wilbur","year":"2016","unstructured":"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\u20138.","journal-title":"Semin Radiat Oncol"},{"issue":"11","key":"244_CR5","first-page":"3234","volume":"52","author":"AL Borresen","year":"1992","unstructured":"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\u20136.","journal-title":"Cancer Res"},{"issue":"6","key":"244_CR6","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1053\/gast.2000.20228","volume":"119","author":"FM Giardiello","year":"2000","unstructured":"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\u201353.","journal-title":"Gastroenterology"},{"issue":"6","key":"244_CR7","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1086\/301639","volume":"61","author":"ED Lynch","year":"1997","unstructured":"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\u201360.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"244_CR8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/ng1959","volume":"39","author":"N Rahman","year":"2007","unstructured":"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\u20137.","journal-title":"Nat Genet"},{"issue":"11","key":"244_CR9","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng1902","volume":"38","author":"S Seal","year":"2006","unstructured":"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\u201341.","journal-title":"Nat Genet"},{"issue":"3","key":"244_CR10","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1136\/jmedgenet-2011-100585","volume":"49","author":"HE Shamseldin","year":"2012","unstructured":"Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012;49(3):184\u20136.","journal-title":"J Med Genet"},{"issue":"9","key":"244_CR11","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/ng.893","volume":"43","author":"C Loveday","year":"2011","unstructured":"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\u201382.","journal-title":"Nat Genet"},{"issue":"1","key":"244_CR12","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/ng879","volume":"31","author":"H Meijers-Heijboer","year":"2002","unstructured":"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\u20139.","journal-title":"Nat Genet"},{"issue":"11","key":"244_CR13","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1038\/ng.2417","volume":"44","author":"N Orr","year":"2012","unstructured":"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\u20134.","journal-title":"Nat Genet"},{"issue":"2","key":"244_CR14","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.cancergencyto.2008.06.012","volume":"186","author":"NV Porhanova","year":"2008","unstructured":"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\u20134.","journal-title":"Cancer Genet Cytogenet"},{"issue":"8","key":"244_CR15","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1038\/ng1837","volume":"38","author":"A Renwick","year":"2006","unstructured":"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\u20135.","journal-title":"Nat Genet"},{"issue":"1","key":"244_CR16","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1478-7954-12-4","volume":"12","author":"A Shamseddine","year":"2014","unstructured":"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\u20132008 and projections until 2018. Popul Health Metr. 2014;12(1):4.","journal-title":"Popul Health Metr"},{"issue":"4","key":"244_CR17","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1634\/theoncologist.2014-0364","volume":"20","author":"NS Saghir El","year":"2015","unstructured":"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\u201364.","journal-title":"Oncologist"},{"issue":"1","key":"244_CR18","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1897-4287-10-7","volume":"10","author":"N Jalkh","year":"2012","unstructured":"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.","journal-title":"Hered Cancer Clin Pract"},{"issue":"1","key":"244_CR19","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1054\/brst.2001.0358","volume":"11","author":"M Sundquist","year":"2002","unstructured":"Sundquist M, Thorstenson S, Brudin L, Wingren S, Nordenskjold B. Incidence and prognosis in early onset breast cancer. Breast. 2002;11(1):30\u20135.","journal-title":"Breast"},{"issue":"2","key":"244_CR20","doi-asserted-by":"crossref","first-page":"e55681","DOI":"10.1371\/journal.pone.0055681","volume":"8","author":"FJ Gracia-Aznarez","year":"2013","unstructured":"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.","journal-title":"PLoS One"},{"issue":"10","key":"244_CR21","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.1002\/cncr.24200","volume":"115","author":"MJ Hall","year":"2009","unstructured":"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\u201333.","journal-title":"Cancer"},{"issue":"6","key":"244_CR22","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1002\/(SICI)1097-0142(20000315)88:6<1393::AID-CNCR17>3.0.CO;2-P","volume":"88","author":"KE Malone","year":"2000","unstructured":"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\u2013402.","journal-title":"Cancer"},{"issue":"4","key":"244_CR23","doi-asserted-by":"crossref","first-page":"197","DOI":"10.7150\/ijms.5.197","volume":"5","author":"N Uhrhammer","year":"2008","unstructured":"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\u2013202.","journal-title":"Int J Med Sci"},{"issue":"3","key":"244_CR24","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"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.","journal-title":"Nucleic Acids Res"},{"issue":"14","key":"244_CR25","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754\u201360.","journal-title":"Bioinformatics"},{"issue":"9","key":"244_CR26","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"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\u2013303.","journal-title":"Genome Res"},{"issue":"21","key":"244_CR27","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","volume":"25","author":"B Li","year":"2009","unstructured":"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\u201350.","journal-title":"Bioinformatics"},{"issue":"5","key":"244_CR28","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"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\u20138.","journal-title":"Nat Genet"},{"issue":"1","key":"244_CR29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"PD Stenson","year":"2014","unstructured":"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\u20139.","journal-title":"Hum Genet"},{"issue":"5","key":"244_CR30","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/nmeth.1974","volume":"9","author":"L Clarke","year":"2012","unstructured":"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\u201362.","journal-title":"Nat Methods"},{"issue":"2","key":"244_CR31","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/1098-1004(200008)16:2<123::AID-HUMU4>3.0.CO;2-Y","volume":"16","author":"C Szabo","year":"2000","unstructured":"Szabo C, Masiello A, Ryan JF, Brody LC. The breast cancer information core: database design, structure, and scope. Hum Mutat. 2000;16(2):123\u201331.","journal-title":"Hum Mutat"},{"issue":"2","key":"244_CR32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/humu.20201","volume":"26","author":"IF Fokkema","year":"2005","unstructured":"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\u20138.","journal-title":"Hum Mutat"},{"issue":"Database issue","key":"244_CR33","doi-asserted-by":"crossref","first-page":"D805","DOI":"10.1093\/nar\/gku1075","volume":"43","author":"SA Forbes","year":"2015","unstructured":"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\u2013811.","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"244_CR34","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/humu.21628","volume":"33","author":"AB Spurdle","year":"2012","unstructured":"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\u20137.","journal-title":"Hum Mutat"},{"issue":"3","key":"244_CR35","doi-asserted-by":"crossref","first-page":"E1175","DOI":"10.1002\/humu.21200","volume":"31","author":"S Brakeleer De","year":"2010","unstructured":"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\u20131185.","journal-title":"Hum Mutat"},{"issue":"1","key":"244_CR36","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1136\/jmg.2006.043091","volume":"44","author":"A Smith","year":"2007","unstructured":"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\u20135.","journal-title":"J Med Genet"},{"issue":"11","key":"244_CR37","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1136\/jmg.2007.051268","volume":"44","author":"S Masciari","year":"2007","unstructured":"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\u201331.","journal-title":"J Med Genet"},{"issue":"3","key":"244_CR38","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1590\/S1415-47572009005000049","volume":"32","author":"IP Ewald","year":"2009","unstructured":"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\u201346.","journal-title":"Genet Mol Biol"},{"issue":"4","key":"244_CR39","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s10689-009-9275-3","volume":"8","author":"MJ Marafie","year":"2009","unstructured":"Marafie MJ, Al-Awadi S, Al-Mosawi F, Elshafey A, Al-Ali W, Al-Mulla F. Impact of 226C\u2009>\u2009T 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\u201398.","journal-title":"Fam Cancer"},{"issue":"9","key":"244_CR40","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1093\/hmg\/ddm050","volume":"16","author":"N Johnson","year":"2007","unstructured":"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\u20137.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"244_CR41","doi-asserted-by":"crossref","first-page":"2192","DOI":"10.1158\/1078-0432.CCR-08-1417","volume":"15","author":"ME Sehl","year":"2009","unstructured":"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\u2013203.","journal-title":"Clin Cancer Res"}],"container-title":["BMC Medical Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12920-017-0244-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T06:36:13Z","timestamp":1498372573000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-017-0244-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,15]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["244"],"URL":"https:\/\/doi.org\/10.1186\/s12920-017-0244-7","relation":{},"ISSN":["1755-8794"],"issn-type":[{"value":"1755-8794","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,15]]},"article-number":"8"}}