{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:47:13Z","timestamp":1789627633448,"version":"build-2803163510"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,9,29]],"date-time":"2006-09-29T00:00:00Z","timestamp":1159488000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Cancer"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1186\/1471-2407-6-230","type":"journal-article","created":{"date-parts":[[2006,9,29]],"date-time":"2006-09-29T18:25:42Z","timestamp":1159554342000},"source":"Crossref","is-referenced-by-count":44,"title":["Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast\/ovarian cancer families"],"prefix":"10.1186","volume":"6","author":[{"given":"Francine","family":"Durocher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvan","family":"Labrie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny","family":"Soucy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Sinilnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damian","family":"Labuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Bessette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyne","family":"Chiquette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Laframboise","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"L\u00e9pine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Lesp\u00e9rance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Ouellette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxane","family":"Pichette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Plante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean V","family":"Tavtigian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Simard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,9,29]]},"reference":[{"key":"582_CR1","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1201\/b13271-23","volume-title":"Genetic Predisposition to Cancer","author":"RS Houlston","year":"2004","unstructured":"Houlston RS, Peto J: Genetics and the common cancers. Genetic Predisposition to Cancer. Edited by: Eeles RA, Easton DF, Ponder BAJ, Eng C. 2004, New York: Oxford University Press, 235-247."},{"key":"582_CR2","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/82533","volume":"26","author":"J Peto","year":"2000","unstructured":"Peto J, Mack TM: High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000, 26: 411-414. 10.1038\/82533.","journal-title":"Nat Genet"},{"key":"582_CR3","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1056\/NEJM200007133430201","volume":"343","author":"P Lichtenstein","year":"2000","unstructured":"Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K: Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000, 343: 78-85. 10.1056\/NEJM200007133430201.","journal-title":"N Engl J Med"},{"key":"582_CR4","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1038\/nm1087","volume":"10","author":"B Vogelstein","year":"2004","unstructured":"Vogelstein B, Kinzler KW: Cancer genes and the pathways they control. Nat Med. 2004, 10: 789-799. 10.1038\/nm1087.","journal-title":"Nat Med"},{"key":"582_CR5","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/nrg1521","volume":"6","author":"JN Hirschhorn","year":"2005","unstructured":"Hirschhorn JN, Daly MJ: Genome-wide association studies for common diseases and complex traits. Nat Rev Genet. 2005, 6: 95-108. 10.1038\/nrg1521.","journal-title":"Nat Rev Genet"},{"key":"582_CR6","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1038\/nrc1476","volume":"4","author":"PD Pharoah","year":"2004","unstructured":"Pharoah PD, Dunning AM, Ponder BA, Easton DF: Association studies for finding cancer-susceptibility genetic variants. Nat Rev Cancer. 2004, 4: 850-860. 10.1038\/nrc1476.","journal-title":"Nat Rev Cancer"},{"key":"582_CR7","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1038\/nrg1522","volume":"6","author":"WY Wang","year":"2005","unstructured":"Wang WY, Barratt BJ, Clayton DG, Todd JA: Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet. 2005, 6: 109-118. 10.1038\/nrg1522.","journal-title":"Nat Rev Genet"},{"key":"582_CR8","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1023\/B:JOMG.0000048770.90334.3b","volume":"9","author":"D Thompson","year":"2004","unstructured":"Thompson D, Easton D: The genetic epidemiology of breast cancer genes. J Mammary Gland Biol Neoplasia. 2004, 9: 221-236. 10.1023\/B:JOMG.0000048770.90334.3b.","journal-title":"J Mammary Gland Biol Neoplasia"},{"key":"582_CR9","doi-asserted-by":"publisher","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, North B, Jayatilake H, Barfoot R, Spanova K, et al: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006, 38: 873-875. 10.1038\/ng1837.","journal-title":"Nat Genet"},{"key":"582_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gepi.1014","volume":"21","author":"AC Antoniou","year":"2001","unstructured":"Antoniou AC, Pharoah PD, McMullan G, Day NE, Ponder BA, Easton D: Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study. Genet Epidemiol. 2001, 21: 1-18. 10.1002\/gepi.1014.","journal-title":"Genet Epidemiol"},{"key":"582_CR11","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/sj.bjc.6600008","volume":"86","author":"AC Antoniou","year":"2002","unstructured":"Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF: A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer. 2002, 86: 76-83. 10.1038\/sj.bjc.6600008.","journal-title":"Br J Cancer"},{"key":"582_CR12","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/ng853","volume":"31","author":"PD Pharoah","year":"2002","unstructured":"Pharoah PD, Antoniou A, Bobrow M, Zimmern RL, Easton DF, Ponder BA: Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002, 31: 33-36. 10.1038\/ng853.","journal-title":"Nat Genet"},{"key":"582_CR13","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1517\/14622416.1.1.27","volume":"1","author":"M Cargill","year":"2000","unstructured":"Cargill M, Daley GQ: Mining for SNPs: putting the common variants-common disease hypothesis to the test. Pharmacogenomics. 2000, 1: 27-37. 10.1517\/14622416.1.1.27.","journal-title":"Pharmacogenomics"},{"key":"582_CR14","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/ng1071","volume":"33","author":"KE Lohmueller","year":"2003","unstructured":"Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN: Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet. 2003, 33: 177-182. 10.1038\/ng1071.","journal-title":"Nat Genet"},{"key":"582_CR15","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1016\/S0168-9525(01)02410-6","volume":"17","author":"DE Reich","year":"2001","unstructured":"Reich DE, Lander ES: On the allelic spectrum of human disease. Trends Genet. 2001, 17: 502-510. 10.1016\/S0168-9525(01)02410-6.","journal-title":"Trends Genet"},{"key":"582_CR16","doi-asserted-by":"publisher","first-page":"15992","DOI":"10.1073\/pnas.0407187101","volume":"101","author":"NS Fearnhead","year":"2004","unstructured":"Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF: Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci USA. 2004, 101: 15992-15997. 10.1073\/pnas.0407187101.","journal-title":"Proc Natl Acad Sci USA"},{"key":"582_CR17","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1086\/321272","volume":"69","author":"JK Pritchard","year":"2001","unstructured":"Pritchard JK: Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet. 2001, 69: 124-137. 10.1086\/321272.","journal-title":"Am J Hum Genet"},{"key":"582_CR18","doi-asserted-by":"publisher","first-page":"2417","DOI":"10.1093\/hmg\/11.20.2417","volume":"11","author":"JK Pritchard","year":"2002","unstructured":"Pritchard JK, Cox NJ: The allelic architecture of human disease genes: common disease-common variant or not?. Hum Mol Genet. 2002, 11: 2417-2423. 10.1093\/hmg\/11.20.2417.","journal-title":"Hum Mol Genet"},{"key":"582_CR19","doi-asserted-by":"publisher","first-page":"3145","DOI":"10.1093\/hmg\/ddg337","volume":"12","author":"WY Wang","year":"2003","unstructured":"Wang WY, Todd JA: The usefulness of different density SNP maps for disease association studies of common variants. Hum Mol Genet. 2003, 12: 3145-3149. 10.1093\/hmg\/ddg337.","journal-title":"Hum Mol Genet"},{"key":"582_CR20","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/S0092-8674(02)00615-3","volume":"108","author":"AR Venkitaraman","year":"2002","unstructured":"Venkitaraman AR: Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002, 108: 171-182. 10.1016\/S0092-8674(02)00615-3.","journal-title":"Cell"},{"key":"582_CR21","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/nrc1321","volume":"4","author":"AR Venkitaraman","year":"2004","unstructured":"Venkitaraman AR: Tracing the network connecting BRCA and Fanconi anaemia proteins. Nat Rev Cancer. 2004, 4: 266-276. 10.1038\/nrc1321.","journal-title":"Nat Rev Cancer"},{"key":"582_CR22","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1093\/jnci\/94.3.205","volume":"94","author":"G Chenevix-Trench","year":"2002","unstructured":"Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, et al: Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst. 2002, 94: 205-215.","journal-title":"J Natl Cancer Inst"},{"key":"582_CR23","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1086\/301706","volume":"62","author":"T Stankovic","year":"1998","unstructured":"Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, et al: ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet. 1998, 62: 334-345. 10.1086\/301706.","journal-title":"Am J Hum Genet"},{"key":"582_CR24","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1158\/0008-5472.CAN-03-2678","volume":"64","author":"CI Szabo","year":"2004","unstructured":"Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, et al: Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?. Cancer Res. 2004, 64: 840-843. 10.1158\/0008-5472.CAN-03-2678.","journal-title":"Cancer Res"},{"key":"582_CR25","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/humu.9344","volume":"25","author":"D Thompson","year":"2005","unstructured":"Thompson D, Antoniou AC, Jenkins M, Marsh A, Chen X, Wayne T, Tesoriero A, Milne R, Spurdle A, Thorstenson Y, et al: Two ATM variants and breast cancer risk. Hum Mutat. 2005, 25: 594-595. 10.1002\/humu.9344.","journal-title":"Hum Mutat"},{"key":"582_CR26","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1093\/jnci\/dji141","volume":"97","author":"D Thompson","year":"2005","unstructured":"Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF: Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005, 97: 813-822.","journal-title":"J Natl Cancer Inst"},{"key":"582_CR27","first-page":"3325","volume":"63","author":"YR Thorstenson","year":"2003","unstructured":"Thorstenson YR, Roxas A, Kroiss R, Jenkins MA, Yu KM, Bachrich T, Muhr D, Wayne TL, Chu G, Davis RW, et al: Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res. 2003, 63: 3325-3333.","journal-title":"Cancer Res"},{"key":"582_CR28","doi-asserted-by":"publisher","first-page":"1175","DOI":"10.1086\/421251","volume":"74","author":"CHEK2 Breast Cancer Case-Control Consortium","year":"2004","unstructured":"CHEK2 Breast Cancer Case-Control Consortium: CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004, 74: 1175-1182. 10.1086\/421251.","journal-title":"Am J Hum Genet"},{"key":"582_CR29","doi-asserted-by":"publisher","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, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, et al: Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002, 31: 55-59. 10.1038\/ng879.","journal-title":"Nat Genet"},{"key":"582_CR30","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/humu.10173","volume":"21","author":"M Gasco","year":"2003","unstructured":"Gasco M, Yulug IG, Crook T: TP53 mutations in familial breast cancer: functional aspects. Hum Mutat. 2003, 21: 301-306. 10.1002\/humu.10173.","journal-title":"Hum Mutat"},{"key":"582_CR31","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1111\/j.1349-7006.1998.tb00473.x","volume":"89","author":"K Ueda","year":"1998","unstructured":"Ueda K, Nishijima M, Inui H, Watatani M, Yayoi E, Okamura J, Yasutomi M, Nakamura Y, Miyoshi Y: Infrequent mutations in the PTEN\/MMAC1 gene among primary breast cancers. Jpn J Cancer Res. 1998, 89: 17-21.","journal-title":"Jpn J Cancer Res"},{"key":"582_CR32","doi-asserted-by":"publisher","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, Cruz-Correa M, Offerhaus JA: Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000, 119: 1447-1453. 10.1053\/gast.2000.20228.","journal-title":"Gastroenterology"},{"key":"582_CR33","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1093\/hmg\/11.12.1399","volume":"11","author":"B Kuschel","year":"2002","unstructured":"Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, et al: Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet. 2002, 11: 1399-1407. 10.1093\/hmg\/11.12.1399.","journal-title":"Hum Mol Genet"},{"key":"582_CR34","first-page":"393","volume":"5","author":"AA Goodarzi","year":"2003","unstructured":"Goodarzi AA, Block WD, Lees-Miller SP: The role of ATM and ATR in DNA damage-induced cell cycle control. Prog Cell Cycle Res. 2003, 5: 393-411.","journal-title":"Prog Cell Cycle Res"},{"key":"582_CR35","doi-asserted-by":"publisher","first-page":"47759","DOI":"10.1074\/jbc.M009785200","volume":"276","author":"IM Ward","year":"2001","unstructured":"Ward IM, Chen J: Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress. J Biol Chem. 2001, 276: 47759-47762. 10.1074\/jbc.M009785200.","journal-title":"J Biol Chem"},{"key":"582_CR36","doi-asserted-by":"publisher","first-page":"1448","DOI":"10.1101\/gad.840500","volume":"14","author":"Q Liu","year":"2000","unstructured":"Liu Q, Guntuku S, Cui XS, Matsuoka S, Cortez D, Tamai K, Luo G, Carattini-Rivera S, DeMayo F, Bradley A, et al: Chk1 is an essential kinase that is regulated by Atr and required for the G(2)\/M DNA damage checkpoint. Genes Dev. 2000, 14: 1448-1459. 10.1101\/gad.840500.","journal-title":"Genes Dev"},{"key":"582_CR37","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1101\/gad.13.2.152","volume":"13","author":"RS Tibbetts","year":"1999","unstructured":"Tibbetts RS, Brumbaugh KM, Williams JM, Sarkaria JN, Cliby WA, Shieh SY, Taya Y, Prives C, Abraham RT: A role for ATR in the DNA damage-induced phosphorylation of p53. Genes Dev. 1999, 13: 152-157.","journal-title":"Genes Dev"},{"key":"582_CR38","doi-asserted-by":"publisher","first-page":"4129","DOI":"10.1128\/MCB.21.13.4129-4139.2001","volume":"21","author":"H Zhao","year":"2001","unstructured":"Zhao H, Piwnica-Worms H: ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1. Mol Cell Biol. 2001, 21: 4129-4139. 10.1128\/MCB.21.13.4129-4139.2001.","journal-title":"Mol Cell Biol"},{"key":"582_CR39","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1101\/gad.950302","volume":"16","author":"L Zou","year":"2002","unstructured":"Zou L, Cortez D, Elledge SJ: Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin. Genes Dev. 2002, 16: 198-208. 10.1101\/gad.950302.","journal-title":"Genes Dev"},{"key":"582_CR40","doi-asserted-by":"publisher","first-page":"2989","DOI":"10.1101\/gad.851000","volume":"14","author":"RS Tibbetts","year":"2000","unstructured":"Tibbetts RS, Cortez D, Brumbaugh KM, Scully R, Livingston D, Elledge SJ, Abraham RT: Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. Genes Dev. 2000, 14: 2989-3002. 10.1101\/gad.851000.","journal-title":"Genes Dev"},{"key":"582_CR41","doi-asserted-by":"publisher","first-page":"14711","DOI":"10.1021\/bi991614n","volume":"38","author":"DR Schmidt","year":"1999","unstructured":"Schmidt DR, Schreiber SL: Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4. Biochemistry. 1999, 38: 14711-14717. 10.1021\/bi991614n.","journal-title":"Biochemistry"},{"key":"582_CR42","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1038\/sj.emboj.7600113","volume":"23","author":"P Pichierri","year":"2004","unstructured":"Pichierri P, Rosselli F: The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways. Embo J. 2004, 23: 1178-1187. 10.1038\/sj.emboj.7600113.","journal-title":"Embo J"},{"key":"582_CR43","first-page":"19","volume-title":"Molecular Genetics of Cancer","author":"F Durocher","year":"2005","unstructured":"Durocher F, Gu\u00e9nard F, Desjardins S, Ouellette G, Labrie Y: Inherited susceptibility to breast cancer: accomplishments and challenges. Molecular Genetics of Cancer. Edited by: Sinnett D. 2005, Research Signpost, 19-93."},{"key":"582_CR44","doi-asserted-by":"publisher","first-page":"2685","DOI":"10.1093\/hmg\/ddi302","volume":"14","author":"H Zhong","year":"2005","unstructured":"Zhong H, Bryson A, Eckersdorff M, Ferguson DO: Rad50 depletion impacts upon ATR-dependent DNA damage responses. Hum Mol Genet. 2005, 14: 2685-2693. 10.1093\/hmg\/ddi302.","journal-title":"Hum Mol Genet"},{"key":"582_CR45","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1101\/gad.14.4.397","volume":"14","author":"EJ Brown","year":"2000","unstructured":"Brown EJ, Baltimore D: ATR disruption leads to chromosomal fragmentation and early embryonic lethality. Genes Dev. 2000, 14: 397-402.","journal-title":"Genes Dev"},{"key":"582_CR46","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/S0960-9822(00)00447-4","volume":"10","author":"A de Klein","year":"2000","unstructured":"de Klein A, Muijtjens M, van Os R, Verhoeven Y, Smit B, Carr AM, Lehmann AR, Hoeijmakers JH: Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice. Curr Biol. 2000, 10: 479-482. 10.1016\/S0960-9822(00)00447-4.","journal-title":"Curr Biol"},{"key":"582_CR47","doi-asserted-by":"publisher","first-page":"2860","DOI":"10.1093\/emboj\/cdg274","volume":"22","author":"N Foray","year":"2003","unstructured":"Foray N, Marot D, Gabriel A, Randrianarison V, Carr AM, Perricaudet M, Ashworth A, Jeggo P: A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein. Embo J. 2003, 22: 2860-2871. 10.1093\/emboj\/cdg274.","journal-title":"Embo J"},{"key":"582_CR48","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s10689-005-2570-8","volume":"5","author":"D Avard","year":"2006","unstructured":"Avard D, Bridge P, Bucci LM, Chiquette J, Dorval M, Durocher F, Easton D, Godard B, Goldgar D, Knoppers BM, et al: Partnering in oncogenetic research-The INHERIT BRCAs Experience: Opportunities and Challenges. Familial Cancer. 2006, 5: 3-13. 10.1007\/s10689-005-2570-8.","journal-title":"Familial Cancer"},{"key":"582_CR49","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s00439-005-1297-9","volume":"117","author":"H Vezina","year":"2005","unstructured":"Vezina H, Durocher F, Dumont M, Houde L, Szabo C, Tranchant M, Chiquette J, Plante M, Laframboise R, Lepine J, et al: Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast\/ovarian cancer families. Hum Genet. 2005, 117: 119-132. 10.1007\/s00439-005-1297-9.","journal-title":"Hum Genet"},{"key":"582_CR50","doi-asserted-by":"publisher","first-page":"R3","DOI":"10.1186\/bcr1365","volume":"8","author":"AC Antoniou","year":"2005","unstructured":"Antoniou AC, Durocher F, Smith P, Simard J, Easton DF: BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res. 2005, 8: R3-10.1186\/bcr1365.","journal-title":"Breast Cancer Res"},{"key":"582_CR51","doi-asserted-by":"publisher","first-page":"2862","DOI":"10.1158\/1055-9965.EPI-05-0512","volume":"14","author":"M Dorval","year":"2005","unstructured":"Dorval M, Gauthier G, Maunsell E, Dugas MJ, Rouleau I, Chiquette J, Plante M, Laframboise R, Gaudet M, Bridge PJ, et al: No evidence of false reassurance among women with an inconclusive BRCA1\/2 genetic test result. Cancer Epidemiol Biomarkers Prev. 2005, 14: 2862-2867. 10.1158\/1055-9965.EPI-05-0512.","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"582_CR52","doi-asserted-by":"crossref","unstructured":"Simard J, Dumont M, Moisan AM, Gaborieau V, Vezina H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, et al: Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multi-step testing approach in French-Canadian high-risk breast and ovarian cancer families. J Med Genet. 2006, Aug 11; [Epub ahead of print]","DOI":"10.1136\/jmg.2006.044388"},{"key":"582_CR53","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1089\/gte.2006.10.104","volume":"10","author":"A Moisan","year":"2006","unstructured":"Moisan A, Fortin J, Dumont M, Samson C, Bessette P, Chiquette J, Laframboise R, L\u00e9pine J, Lesp\u00e9rance B, Pichette R, et al: No evidence of BRCA1\/2 genomic rearrangements in high risk French-Canadian breast\/ovarian cancer families. Genetic Testing. 2006, 10: 104-115. 10.1089\/gte.2006.10.104.","journal-title":"Genetic Testing"},{"key":"582_CR54","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1002\/gcc.20199","volume":"43","author":"V Bonadona","year":"2005","unstructured":"Bonadona V, Sinilnikova OM, Chopin S, Antoniou AC, Mignotte H, Mathevet P, Bremond A, Martin A, Bobin JY, Romestaing P, et al: Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France. Genes Chromosomes Cancer. 2005, 43: 404-413. 10.1002\/gcc.20199.","journal-title":"Genes Chromosomes Cancer"},{"key":"582_CR55","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s10689-005-2571-7","volume":"5","author":"OM Sinilnikova","year":"2006","unstructured":"Sinilnikova OM, Mazoyer S, Bonnardel C, Lynch HT, Narod SA, GM L: BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: Reflection on the Creighton University historical series of high risk families. Familial Cancer. 2006, 5: 15-20. 10.1007\/s10689-005-2571-7.","journal-title":"Familial Cancer"},{"key":"582_CR56","doi-asserted-by":"publisher","first-page":"2147","DOI":"10.1093\/bioinformatics\/btg276","volume":"19","author":"K Ding","year":"2003","unstructured":"Ding K, Zhou K, He F, Shen Y: LDA-a java-based linkage disequilibrium analyzer. Bioinformatics. 2003, 19: 2147-2148. 10.1093\/bioinformatics\/btg276.","journal-title":"Bioinformatics"},{"key":"582_CR57","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1006\/geno.1995.9003","volume":"29","author":"B Devlin","year":"1995","unstructured":"Devlin B, Risch N: A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics. 1995, 29: 311-322. 10.1006\/geno.1995.9003.","journal-title":"Genomics"},{"key":"582_CR58","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1093\/genetics\/50.4.757","volume":"50","author":"RC Lewontin","year":"1964","unstructured":"Lewontin RC: The Interaction of Selection and Linkage. Ii. Optimum Models. Genetics. 1964, 50: 757-782.","journal-title":"Genetics"},{"key":"582_CR59","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1086\/319501","volume":"68","author":"M Stephens","year":"2001","unstructured":"Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001, 68: 978-989. 10.1086\/319501.","journal-title":"Am J Hum Genet"},{"key":"582_CR60","unstructured":"PHASE. [ http:\/\/www.stat.washington.edu\/stephens\/software.html ]"},{"key":"582_CR61","unstructured":"HapMap website. [ http:\/\/www.hapmap.org ]"},{"key":"582_CR62","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1093\/bioinformatics\/bth457","volume":"21","author":"JC Barrett","year":"2005","unstructured":"Barrett JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005, 21: 263-265. 10.1093\/bioinformatics\/bth457.","journal-title":"Bioinformatics"},{"key":"582_CR63","unstructured":"Haploview. [ http:\/\/www.broad.mit.edu\/mpg\/haploview ]"},{"key":"582_CR64","unstructured":"Splice Site Prediction Program using Neural Networks (SSPNN). [ http:\/\/www.fruitfly.org\/seq_tools\/splice.html ]"},{"key":"582_CR65","unstructured":"ClustalW. [ http:\/\/www.ebi.ac.uk\/clustalw ]"},{"key":"582_CR66","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.bbaexp.2005.08.011","volume":"1731","author":"J Fortin","year":"2005","unstructured":"Fortin J, Moisan AM, Dumont M, Leblanc G, Labrie Y, Durocher F, Bessette P, Bridge P, Chiquette J, Laframboise R, et al: A new alternative splice variant of BRCA1 containing an additional in-frame exon. Biochim Biophys Acta. 2005, 1731: 57-65.","journal-title":"Biochim Biophys Acta"},{"key":"582_CR67","first-page":"2840","volume":"50","author":"P Boukamp","year":"1990","unstructured":"Boukamp P, Stanbridge EJ, Foo DY, Cerutti PA, Fusenig NE: c-Ha-ras oncogene expression in immortalized human keratinocytes (HaCaT) alters growth potential in vivo but lacks correlation with malignancy. Cancer Res. 1990, 50: 2840-2847.","journal-title":"Cancer Res"},{"key":"582_CR68","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1083\/jcb.106.3.761","volume":"106","author":"P Boukamp","year":"1988","unstructured":"Boukamp P, Petrussevska RT, Breitkreutz D, Hornung J, Markham A, Fusenig NE: Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line. J Cell Biol. 1988, 106: 761-771. 10.1083\/jcb.106.3.761.","journal-title":"J Cell Biol"},{"key":"582_CR69","doi-asserted-by":"publisher","first-page":"287","DOI":"10.2144\/05382RR05","volume":"8","author":"V Luu-The","year":"2005","unstructured":"Luu-The V, Paquet N, Calvo E, Cumps J: Improved Real-Time RT-PCR method for high-throughput measurements using second derivative calculation and double correction. Biotechniques. 2005, 8: 287-293.","journal-title":"Biotechniques"},{"key":"582_CR70","doi-asserted-by":"publisher","first-page":"R495","DOI":"10.1186\/bcr1037","volume":"7","author":"K Heikkinen","year":"2005","unstructured":"Heikkinen K, Mansikka V, Karppinen SM, Rapakko K, Winqvist R: Mutation analysis of the ATR gene in breast and ovarian cancer families. Breast Cancer Res. 2005, 7: R495-R501. 10.1186\/bcr1037.","journal-title":"Breast Cancer Res"},{"key":"582_CR71","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1126\/science.1069424","volume":"296","author":"SB Gabriel","year":"2002","unstructured":"Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, et al: The structure of haplotype blocks in the human genome. Science. 2002, 296: 2225-2229. 10.1126\/science.1069424.","journal-title":"Science"},{"key":"582_CR72","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/bcr6","volume":"1","author":"DF Easton","year":"1999","unstructured":"Easton DF: How many more breast cancer predisposition genes are there?. Breast Cancer Res. 1999, 1: 14-17. 10.1186\/bcr6.","journal-title":"Breast Cancer Res"},{"key":"582_CR73","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1016\/S0959-8049(00)00082-4","volume":"36","author":"BL Weber","year":"2000","unstructured":"Weber BL, Nathanson KL: Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer. 2000, 36: 1193-1199. 10.1016\/S0959-8049(00)00082-4.","journal-title":"Eur J Cancer"},{"key":"582_CR74","first-page":"209","volume":"36","author":"M Swift","year":"1976","unstructured":"Swift M, Sholman L, Perry M, Chase C: Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res. 1976, 36: 209-215.","journal-title":"Cancer Res"},{"key":"582_CR75","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1086\/302746","volume":"66","author":"A Broeks","year":"2000","unstructured":"Broeks A, Urbanus JH, Floore AN, Dahler EC, Klijn JG, Rutgers EJ, Devilee P, Russell NS, van Leeuwen FE, van't Veer LJ: ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet. 2000, 66: 494-500. 10.1086\/302746.","journal-title":"Am J Hum Genet"},{"key":"582_CR76","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1038\/82533","volume":"26","author":"J Peto","year":"2000","unstructured":"Peto J, Mack TM: High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000, 26: 411-414. 10.1038\/82533.","journal-title":"Nat Genet"},{"key":"582_CR77","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gepi.20074","volume":"29","author":"AC Antoniou","year":"2005","unstructured":"Antoniou AC, Goldgar DE, Andrieu N, Chang-Claude J, Brohet R, Rookus MA, Easton DF: A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol. 2005, 29: 1-11. 10.1002\/gepi.20074.","journal-title":"Genet Epidemiol"},{"key":"582_CR78","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1038\/ng1001-233","volume":"29","author":"GC Johnson","year":"2001","unstructured":"Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, Ueda H, Cordell HJ, Eaves IA, Dudbridge F, et al: Haplotype tagging for the identification of common disease genes. Nat Genet. 2001, 29: 233-237. 10.1038\/ng1001-233.","journal-title":"Nat Genet"},{"key":"582_CR79","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1086\/378098","volume":"73","author":"ME Weale","year":"2003","unstructured":"Weale ME, Depondt C, Macdonald SJ, Smith A, Lai PS, Shorvon SD, Wood NW, Goldstein DB: Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet. 2003, 73: 551-565. 10.1086\/378098.","journal-title":"Am J Hum Genet"},{"key":"582_CR80","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/S0378-1119(01)00543-1","volume":"272","author":"JL Mannino","year":"2001","unstructured":"Mannino JL, Kim W, Wernick M, Nguyen SV, Braquet R, Adamson AW, Den Z, Batzer MA, Collins CC, Brown KD: Evidence for alternate splicing within the mRNA transcript encoding the DNA damage response kinase ATR. Gene. 2001, 272: 35-43. 10.1016\/S0378-1119(01)00543-1.","journal-title":"Gene"},{"key":"582_CR81","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1038\/ng1129","volume":"33","author":"M O'Driscoll","year":"2003","unstructured":"O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA: A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet. 2003, 33: 497-501. 10.1038\/ng1129.","journal-title":"Nat Genet"},{"key":"582_CR82","doi-asserted-by":"publisher","first-page":"3127","DOI":"10.1093\/hmg\/ddh335","volume":"13","author":"GK Alderton","year":"2004","unstructured":"Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O'Driscoll M: Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet. 2004, 13: 3127-3138. 10.1093\/hmg\/ddh335.","journal-title":"Hum Mol Genet"},{"key":"582_CR83","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1038\/labinvest.3700235","volume":"85","author":"A Liu","year":"2005","unstructured":"Liu A, Takakuwa T, Fujita S, Ham MF, Luo WJ, Daibata M, Aozasa K: Alterations of DNA damage-response genes ATM and ATR in pyothorax-associated lymphoma. Lab Invest. 2005, 85: 436-446. 10.1038\/labinvest.3700235.","journal-title":"Lab Invest"},{"key":"582_CR84","first-page":"525","volume-title":"The RNA World","author":"C Burge","year":"1999","unstructured":"Burge C, Tuschl T, Sharp P: Splicing of precursors to mRNAs by the spliceosomes. The RNA World. Edited by: Raymond F, Gesteland TC, John F. 1999, Atkins. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 525-560."}],"container-title":["BMC Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2407-6-230\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-6-230.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-6-230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2407-6-230.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T01:10:17Z","timestamp":1683594617000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmccancer.biomedcentral.com\/articles\/10.1186\/1471-2407-6-230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,29]]},"references-count":84,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["582"],"URL":"https:\/\/doi.org\/10.1186\/1471-2407-6-230","relation":{},"ISSN":["1471-2407"],"issn-type":[{"value":"1471-2407","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,29]]},"article-number":"230"}}