References
Alter BP (2003) Cancer in Fanconi anemia, 1927–2001. Cancer 97:425–440. doi:10.1002/cncr.11046
Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer 83:1301–1308. doi:10.1054/bjoc.2000.1407
Bridge WL, Vandenberg CJ, Franklin RJ et al (2005) The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet 37:953–957. doi:10.1038/ng1627
Cao AY, Huang J, Hu Z et al (2009) The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat 114:457–462. doi:10.1007/s10549-008-0036-z
Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319. doi:10.1038/nature05609
Foulkes WD, Ghadirian P, Akbari MR et al (2007) Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res 9:R83. doi:10.1186/bcr1828
Garcia MJ, Fernandez V, Osorio A et al (2008) Analysis of FANCB and FANCN/PALB2 Fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat 113:545–551. doi:10.1007/s10549-008-9945-0
Giardiello FM, Brensinger JD, Tersmette AC et al (2000) Very high risk of cancer in familial Peutz–Jeghers syndrome. Gastroenterology 119:1447–1453. doi:10.1053/gast.2000.20228
Gunnarsson H, Arason A, Gillanders EM et al (2008) Evidence against PALB2 involvement in Icelandic breast cancer susceptibility. J Negat Results Biomed 7:5. doi:10.1186/1477-5751-7-5
Houghtaling S, Timmers C, Noll M et al (2003) Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice. Genes Dev 17:2021–2035. doi:10.1101/gad.1103403
Howlett NG, Taniguchi T, Olson S et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606–609. doi:10.1126/science.1073834
Levitus M, Waisfisz Q, Godthelp BC et al (2005) The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37:934–935. doi:10.1038/ng1625
Levran O, Attwooll C, Henry RT et al (2005) The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37:931–933. doi:10.1038/ng1624
Lewis AG, Flanagan J, Marsh A et al (2005) Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer. Breast Cancer Res 7:R1005–R1016. doi:10.1186/bcr1336
Lynch ED, Ostermeyer EA, Lee MK et al (1997) Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Am J Hum Genet 61:1254–1260. doi:10.1086/301639
Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233–1238. doi:10.1126/science.1978757
Mathew CG (2006) Fanconi anaemia genes and susceptibility to cancer. Oncogene 25:5875–5884. doi:10.1038/sj.onc.1209878
Meijer GA (2007) The 13th Fanconi anemia gene identified: FANCI—importance of the ‘Fanconi anemia pathway’ for cellular oncology. Cell Oncol 29:181–182
Oldenburg RA, Meijers-Heijboer H, Cornelisse CJ et al (2007) Genetic susceptibility for breast cancer: how many more genes to be found? Crit Rev Oncol Hematol 63:125–149. doi:10.1016/j.critrevonc.2006.12.004
Pylkas K, Erkko H, Nikkila J et al (2008) Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. BMC Cancer 8:146. doi:10.1186/1471-2407-8-146
Rahman N, Scott RH (2007) Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum Mol Genet 16:60–66 Spec No 1:
Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39:165–167. doi:10.1038/ng1959
Reid S, Schindler D, Hanenberg H et al (2007) Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 39:162–164. doi:10.1038/ng1947
Renwick AD, Thompson S, Seal P et al (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873–875. doi:10.1038/ng1837
Schouten JP, McElgunn CJ, Waaijer R et al (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57. doi:10.1093/nar/gnf056
Seal S, Barfoot R, Jayatilake H et al (2003) Evaluation of Fanconi anemia genes in familial breast cancer predisposition. Cancer Res 63:8596–8599
Seal S, Thompson D, Renwick A et al (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38:1239–1241. doi:10.1038/ng1902
The 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 74:1175–1182. doi:10.1086/421251
Tischkowitz M, Sabbaghian N, Ray AM et al (2008) Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer. Prostate 68:675–678. doi:10.1002/pros.20729
Van der Hout AH, van den Ouweland AM, van der Luijt RB et al (2006) A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. Hum Mutat 27:654–666. doi:10.1002/humu.20340
Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8:735–748. doi:10.1038/nrg2159
Xia B, Dorsman JC, Ameziane N et al (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39:159–161. doi:10.1038/ng1942
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Ameziane, N., van den Ouweland, A.M.W., Adank, M.A. et al. Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer. Breast Cancer Res Treat 118, 651–653 (2009). https://doi.org/10.1007/s10549-009-0428-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10549-009-0428-8