Abstract
The BRIP1 gene encodes a helicase interacting with BRCA1, which contributes to BRCA1-associated DNA repair function. Germ-line BRIP1 mutations affecting the helicase domain activity have been identified in early onset breast cancer patients. In addition, BRIP1 was recently identified as deficient in Fanconi anemia (FA) complementation group J. Given the growing evidence now linking BRCA1, BRCA2, and the FA pathway, as well as the involvement of FA proteins (BRCA2/FANCD1 and PALB2/FANCN) in breast cancer susceptibility, we sought to evaluate the contribution of FANCJ gene alterations regarding breast cancer susceptibility among our cohort of 96 breast cancer individuals from high-risk non-BRCA1/2 French Canadian families. No deleterious mutation, exon deletion, or retention of intronic portions could be identified. However, extensive analysis of the promoter and whole exonic and flanking intronic regions of FANCJ led to the identification of 42 variants, including 22 novel variants not previously reported, four of which were located in the promoter region. Transcription factors analysis revealed a potential involvement of FANCJ promoter variants in regulation of FANCJ expression, and reporter gene assays were performed. The allelic frequency was assessed in a cohort of 73 unaffected French Canadian individuals, and haplotype analysis and tagging single nucleotide polymorphism (SNP) identification were also performed. Although our study unlikely involves FANCJ as a high-risk predisposition gene in non-BRCA1/2 high-risk French Canadian families, the possible association of FANCJ missense variants with phenotypes associated with FA, such as childhood cancer, cannot be excluded.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Alter BP (2003) Cancer in Fanconi anemia, 1927–2001. Cancer 97(2):425–440
Antoniou AC, Easton DF (2003) Polygenic inheritance of breast cancer: implications for design of association studies. Genet Epidemiol 25:190–202
Antoniou AC, Durocher F, Smith P, Simard J, Easton DF; INHERIT BRCAs Program Members (2006) BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res 8(1):R3
Ball S, Arolker M, Purushotham AD (2001) Breast cancer, Cowden disease and PTEN-MATCHS syndrome. Eur J Surg Oncol 27(6):604–606
Belanger H, Beaulieu P, Moreau C, Labuda D, Hudson TJ, Sinnett D (2005) Functional promoter SNPs in cell cycle checkpoint genes. Hum Mol Genet 14(18):2641–2648
Bonfield JK, Rada C, Staden R (1998) Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res 26(14):3404–3409
Boukamp P, Stanbridge EJ, Foo DY, Cerutti PA, Fusenig NE (1990) c-Ha-ras oncogene expression in immortalized human keratinocytes (HaCaT) alters growth potential in vivo but lacks correlation with malignancy. Cancer Res 50(9):2840–2847
Boukamp P, Petrussevska RT, Breitkreutz D, Hornung J, Markham A, Fusenig NE (1998) Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line. J Cell Biol 106(3):761–771
Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM (2001) BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105(1):149–160
Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, Livingston DM (2004) The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci USA 101(8):2357–2362
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31(13):3568–3571
Cartharius K, Frech K, Grote K, Klocke B, Haltmeier M, Klingenhoff A, Frisch M, Bayerlein M, Werner T (2005) MatInspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 21(13):2933–2942
CHEK2 Breast Cancer Case-Control Consortium (2004) 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 74(6):1175–1182
Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK (2002) Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 94(3):205–215
Collaborative Group on Hormonal Factors in Breast Cancer (2001) Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358(9291):1389–1399
Desjardins S, Belleau P, Labrie Y, Ouellette G, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Pichette R, Plante M, INHERIT BRCAs, Durocher F (2008) Genetic variants and haplotype analyses of the ZBRK1/ZNF350 gene in high-risk non-BRCA1/2 French Canadian breast and ovarian cancer families. Int J Cancer 122(1):108–116
Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29(2):311–322
Ding K, Zhou K, He F, Shen Y (2003) LDA-a java-based linkage disequilibrium analyzer. Bioinformatics 19(16):2147–2148
Duguay Y, Báár C, Skorpen F, Guillemette C (2004) A novel functional polymorphism in the uridine diphosphate-glucuronosyltransferase 2B7 promoter with significant impact on promoter activity. Clin Pharmacol Ther 75(3):223–233
Durocher F, Guénard F, Desjardins S, Ouellette G, Labrie Y (2005) Inherited susceptibility to breast cancer: accomplishments and challenges. In: Sinnett D (ed) Molecular genetics of cancer. Research Signpost, Kerala, pp 19–93
Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lepine J, Lesperance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J (2006) Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French-Canadian breast/ovarian cancer families. BMC Cancer 6:230
Durocher F, Labrie Y, Ouellette G, INHERIT BRCAs, Simard J (2007) Genetic sequence variations and ADPRT haplotype analysis in French Canadian families with high risk of breast cancer. J Hum Genet 52(12):963–977
Easton DF (1999) How many more breast cancer predisposition genes are there? Breast Cancer Res 1(1):14–17
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J (1995) The Bloom’s syndrome gene product is homologous to RecQ helicases. Cell 83(4):655–666
Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, Kallioniemi A, Pylkas K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316–319
Figueroa JD, Malats N, Rothman N, Real FX, Silverman D, Kogevinas M, Chanock S, Yeager M, Welch R, Dosemeci M, Tardon A, Serra C, Carrato A, Garcia-Closas R, Castano-Vinyals G, Garcia-Closas M (2007) Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk. Carcinogenesis 28(8):1788–1793
Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B (2007) BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer 7:83
Garcia-Closas M, Egan KM, Newcomb PA, Brinton LA, Titus-Ernstoff L, Chanock S, Welch R, Lissowska J, Peplonska B, Szeszenia-Dabrowska N, Zatonski W, Bardin-Mikolajczak A, Struewing JP (2006) Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet 119(4):376–388
Gasco M, Yulug IG, Crook T (2003) TP53 mutations in familial breast cancer: functional aspects. Hum Mutat 21(3):301–306
Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA (2000) Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 119(6):1447–1453
Guenard F, Labrie Y, Ouellette G, Beauparlant CJ, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Pichette R, Plante M; INHERIT BRCAs, Durocher F (2007) Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families. Fam Cancer 6(4):483–490
Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, Ueda H, Cordell HJ, Eaves IA, Dudbridge F, Twells RC, Payne F, Hughes W, Nutland S, Stevens H, Carr P, Tuomilehto-Wolf E, Tuomilehto J, Gough SC, Clayton DG, Todd JA (2001) Haplotype tagging for the identification of common disease genes. Nat Genet 29(2):233–237
Karppinen SM, Vuosku J, Heikkinen K, Allinen M, Winqvist R (2003) No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 39(3):366–371
Kharat I, Saatcioglu F (1996) Antiestrogenic effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin are mediated by direct transcriptional interference with the liganded estrogen receptor. Cross-talk between aryl hydrocarbon- and estrogen-mediated signaling. J Biol Chem 271(18):10533–10537
Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A (1998) Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. Genomics 54(3):443–452
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y (1999) Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 22(1):82–84
Lalloo F, Varley J, Ellis D, Moran A, O’Dair L, Pharoah P, Evans DG, Early Onset Breast Cancer Study Group (2003) Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361(9363):1101–1102
Lei H, Vorechovsky I (2003) BACH1 517C- > T transition impairs protein translocation to nucleus: a role in breast cancer susceptibility? Int J Cancer 104(3):389–391
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37(9):934–935
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37(9):931–933
Lewis AG, Flanagan J, Marsh A, Pupo GM, Mann G, Spurdle AB, Lindeman GJ, Visvader JE, Brown MA, Chenevix-Trench G, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (2005) Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res 7(6):R1005–1016
Lewontin RC (1964) The interaction of selection and linkage. II. Optimum models. Genetics 50:757–782
Luo L, Lei H, Du Q, von Wachenfeldt A, Kockum I, Luthman H, Vorechovsky I, Lindblom A (2002) No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer 98(4):638–639
Marlowe JL, Knudsen ES, Schwemberger S, Puga A (2004) The aryl hydrocarbon receptor displaces p300 from E2F-dependent promoters and represses S phase-specific gene expression. J Biol Chem 279(28):29013–29022
Medhurst AL, Huber PA, Waisfisz Q, de Winter JP, Mathew CG (2001) Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet 10(4):423–429
Moisan AM, Fortin J, Moisan MD, Samson C, Bessette P, Chiquette J, Laframboise R, Lepine J, Lesperance B, Pichette R, Plante M, Provencher L, Voyer P, Goldgar D, Bridge P, Simard J (2006) No evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families. Genet Test 10(2):104–115
Pharoah PD, Tyrer J, Dunning AM, Easton DF, Ponder BA; SEARCH Investigators (2007) Association between common variation in 120 candidate genes and breast cancer risk. PLoS Genet 3(3):e42
Ponder BA (2001) Cancer genetics. Nature 411(6835):336–341
Quandt K, Frech K, Karas H, Wingender E, Werner T (1995) MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 23(23):4878–4884
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165–167
Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4(3):311–323
Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38(8):873–875
Rutter JL, Smith AM, Davila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP (2003) Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early onset breast cancer cases and reference individuals. Hum Mutat 22(2):121–128
Sambrook J, Russell DW (2001) Irwin N, Janssen KA, Argentine J, Curtis S, Zierler M, Dickerson M, Sialiano I, McInerny N, Brown D, Schaefer S, deBruin D, Atkeson E, Weiss D, Curtis MD (eds) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38(11):1239–1241
Sigurdson AJ, Hauptmann M, Chatterjee N, Alexander BH, Doody MM, Rutter JL, Struewing JP (2004) Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer 4:9
Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L; INHERIT BRCAs, Joly Y, Lajoie MA, Leblanc G, Lepine J, Lesperance B, Vezina H, Parboosingh J, Pichette R, Provencher L, Rheaume J, Sinnett D, Samson C, Simard JC, Tranchant M, Voyer P, Easton D, Tavtigian SV, Knoppers BM, Laframboise R, Bridge P, Goldgar D (2007) Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet 44(2):107–121
Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D’Andrea AD, Elledge SJ (2007) Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 129(2):289–301
Song H, Ramus SJ, Kjaer SK, Hogdall E, Dicioccio RA, Whittemore AS, McGuire V, Hogdall C, Jacobs IJ, Easton DF, Ponder BA, Dunning AM, Gayther SA, D P Pharoah P (2007) Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS ONE 2:e268
Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM (1998) 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 62(2):334–345
Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73(5):1162–1169
Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68(4):978–989
Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van ‘t Veer LJ, Goldgar DE, Meijers-Heijboer H (2004) Are ATM mutations 7271T->G and IVS10–6T–>G really high-risk breast cancer-susceptibility alleles? Cancer Res 64(3):840–843
Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA 104(16):6788–6793
Ueda K, Nishijima M, Inui H, Watatani M, Yayoi E, Okamura J, Yasutomi M, Nakamura Y, Miyoshi Y (1998) Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers. Jpn J Cancer Res 89(1):17–21
Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H (2006) BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer 6:19
Vezina H, Durocher F, Dumont M, Houde L, Szabo C, Tranchant M, Chiquette J, Plante M, Laframboise R, Lepine J, Nevanlinna H, Stoppa-Lyonnet D, Goldgar D, Bridge P, Simard J (2005) Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet 117(2–3):119–132
Weale ME, Depondt C, Macdonald SJ, Smith A, Lai PS, Shorvon SD, Wood NW, Goldstein DB (2003) Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet 73(3):551–565
Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD (1996) Positional cloning of the Werner’s syndrome gene. Science 272(5259):258–262
Yu X, Chini CC, He M, Mer G, Chen J (2003) The BRCT domain is a phospho-protein binding domain. Science 302(5645):639–642
Acknowledgments
The authors are indebted to the participants and their families for their generosity and providing DNA samples. We thank Dr. Damian Labuda and Claudia Moreau at the Centre de recherche de l’Hôpital Ste-Justine for providing control DNA samples. We would like to thank Dr. Martine Dumont, Dr. Penny Soucy, Gilles Leblanc, Carolle Samson, and Martine Tranchant for sample management, mutation screening, and skillful technical assistance, as well as Claire Brousseau, Marie-Andrée Lajoie, Pascale Léger, Hélène Malouin, and Josée Rhéaume, for genetic counselling and clinical data management at the Cancer Genomics Laboratory. A special thank to Mélanie Houde for skillful laboratory assistance. We thank Professor Bartha Maria Knoppers and her colleagues from the Centre de recherche en droit public de l’Université de Montréal for their valuable help with ELSI issues related to our research program. We also appreciate advice received from ethics committees. This work was supported by the Canadian Institutes of Health Research (CIHR) and Institute of Cancer and Institute of Gender and Health for the INHERIT BRCAs research program, the Fonds de la Recherche en Santé du Québec (FRSQ)/Réseau de Médecine Génétique Appliquée (RMGA), the Canadian Breast Cancer Research Alliance, the CURE Foundation, and the Canadian Fanconi Anemia Research Fund. FG is recipient of a studentship from Fondation René Bussières, JS is chairholder of the Canada Research Chair in Oncogenetics, and FD is a recipient of a chercheur boursier from the Fonds de la Recherche en Santé du Québec (FRSQ) and a Research Career Award in the Health Sciences from CIHR/Rx&D Health Research Foundation.
Author information
Authors and Affiliations
Consortia
Corresponding author
Additional information
Jacques Simard holds Canada Research Chair in Oncogenetics. Other members of INHERIT BRCAs involved in clinical aspects of this study are listed in the Appendix.
Electronic supplementary material
Below is the link to the electronic supplementary material.
Appendix
Appendix
Other members of INHERIT BRCAs involved in clinical aspects of this study:
Paul Bessette: Service de gynécologie, Centre Hospitalier Universitaire de Sherbrooke, Fleurimont, QC, J1H 5N4, Canada.
Jocelyne Chiquette: Clinique des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec, QC, G1S 4L8, Canada.
Rachel Laframboise: Service de médecine génétique, CHUQ, Pavillon CHUL, Québec, QC, G1V 4G2, Canada.
Jean Lépine: Centre Hospitalier régional de Rimouski, Rimouski, QC, G5L 5T1, Canada.
Bernard Lespérance, Roxane Pichette: Service d’hémato-oncologie, Hôpital du Sacré-Cœur, Montréal, QC, H4J 1C5, Canada.
Marie Plante: Service de gynécologie, CHUQ, L’Hôtel-Dieu de Québec, Québec, QC, G1R 2J6, Canada.
Rights and permissions
About this article
Cite this article
Guénard, F., Labrie, Y., Ouellette, G. et al. Mutational analysis of the breast cancer susceptibility gene BRIP1/BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. J Hum Genet 53, 579 (2008). https://doi.org/10.1007/s10038-008-0285-z
Received:
Accepted:
Published:
DOI: https://doi.org/10.1007/s10038-008-0285-z
Keywords
This article is cited by
-
Note of clarification of data in the paper entitled association between BRIP1 (BACH1) polymorphisms and breast cancer risk
Breast Cancer Research and Treatment (2015)
-
Analysis of ZNF350/ZBRK1 promoter variants and breast cancer susceptibility in non-BRCA1/2 French Canadian breast cancer families
Journal of Human Genetics (2013)
-
Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis
Breast Cancer Research and Treatment (2013)
-
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families
Familial Cancer (2012)
-
Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy
Breast Cancer Research and Treatment (2011)
