Heim RA, Lench NJ, Swift M: Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. Mutat Res. 1992, 284 (1): 25-36.
Article
CAS
PubMed
Google Scholar
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 (11): 813-822.
Article
CAS
PubMed
Google Scholar
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, Easton DF, Stratton MR, Rahman N: ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006, 38 (8): 873-875. 10.1038/ng1837.
Article
CAS
PubMed
Google Scholar
Taniguchi T, D'Andrea AD: Molecular pathogenesis of Fanconi anemia: recent progress. Blood. 2006, 107 (11): 4223-4233. 10.1182/blood-2005-10-4240.
Article
CAS
PubMed
Google Scholar
Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ: Identification of the FANCI Protein, a Monoubiquitinated FANCD2 Paralog Required for DNA Repair. Cell. 2007
Google Scholar
Tischkowitz M, Dokal I: Fanconi anaemia and leukaemia – clinical and molecular aspects. Br J Haematol. 2004, 126 (2): 176-191. 10.1111/j.1365-2141.2004.05023.x.
Article
CAS
PubMed
Google Scholar
Swift M: Fanconi's Anaemia in the genetics of neoplasia. Nature. 1971, 230 (5293): 370-373. 10.1038/230370a0.
Article
CAS
PubMed
Google Scholar
Swift M, Caldwell RJ, Chase C: Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J Natl Cancer Inst. 1980, 65 (5): 863-867.
CAS
PubMed
Google Scholar
Potter NU, Sarmousakis C, Li FP: Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet. 1983, 9 (1): 61-65. 10.1016/0165-4608(83)90025-0.
Article
CAS
PubMed
Google Scholar
Mathew CG: Fanconi anaemia genes and susceptibility to cancer. Oncogene. 2006, 25 (43): 5875-5884. 10.1038/sj.onc.1209878.
Article
CAS
PubMed
Google Scholar
Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, Henry R, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD: Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res. 2007, 67 (19): 9591-9596. 10.1158/0008-5472.CAN-07-1501.
Article
CAS
PubMed
PubMed Central
Google Scholar
WHO: The International Classification of Disease and Health Related Problems. 1992, 10
Google Scholar
Coleman MP, Hermon C, A D: Person-years (PYRS) – a fortran program for cohort study analysis. International Agency for Research on Cancer internal report no. 89/006. 1989, IARC, Lyon
Google Scholar
Easton D: Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst. 1999, 91 (15): 1310-1316. 10.1093/jnci/91.15.1310.
Article
Google Scholar
Dempster AP, Laird NM, Rubin DB: Maximum likelihood from incomplete data via the EM algorithm (with discussion). J Roy Statist Soc Series B. 1977, 39: 1-38.
Google Scholar
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: Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006, 38 (11): 1239-1241. 10.1038/ng1902.
Article
CAS
PubMed
Google Scholar
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: A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007, 446 (7133): 316-319. 10.1038/nature05609.
Article
CAS
PubMed
Google Scholar
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: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007, 39 (2): 165-167. 10.1038/ng1959.
Article
CAS
PubMed
Google Scholar
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: Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA. 2007, 104 (16): 6788-6793. 10.1073/pnas.0701724104.
Article
CAS
PubMed
PubMed Central
Google Scholar
Patel KJ: Fanconi anemia and breast cancer susceptibility. Nat Genet. 2007, 39 (2): 142-143. 10.1038/ng0207-142.
Article
CAS
PubMed
Google Scholar
Seal S, Barfoot R, Jayatilake H, Smith P, Renwick A, Bascombe L, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N: Evaluation of Fanconi Anemia Genes in Familial Breast Cancer Predisposition. Cancer Res. 2003, 63 (24): 8596-8599.
CAS
PubMed
Google Scholar