Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families
Tóm tắt
Từ khóa
Tài liệu tham khảo
Joenje H, Patel KJ (2001) The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2:446–457
Smogorzewska A, Matsuoka S, Vinciguerra P et al (2007) Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 129:289–301
Whitney MA, Saito H, Jakobs PM et al (1993) A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4:202–205
Callen E, Casado JA, Tischkowitz MD et al (2005) A common founder mutation in FANCA underlies the world’s highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 105:1946–1949
Wang W (2007) Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 8:735–748
Howlett NG, Taniguchi T, Olson S et al (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297:606–609
Seal S, Barfoot R, Jayatilake H et al (2003) Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Cancer Res 63:8596–8599
Luo L, Lei H, Du Q et al (2002) No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer 98:638–639
Karppinen SM, Vuosku J, Heikkinen K et al (2003) No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer 39:366–371
Vahteristo P, Yliannala K, Tamminen A et al (2006) BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer 6:19
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:R1005–1016
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
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
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
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
Tischkowitz M, Xia B, Sabbaghian N et al (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA 104:6788–6793
Erkko H, Xia B, Nikkila J et al (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446:316–319
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. doi:10.1186/bcr1828. (in press)
Milne RL, Ribas G, Gonzalez-Neira A et al (2006) ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res 66:9420–9427
Llort G, Munoz CY, Tuser MP et al (2002) Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Hum Mutat 19:307
Diez O, Osorio A, Duran M et al (2003) Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat 22:301–312
Osorio A, Barroso A, Martinez B et al (2000) Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. Br J Cancer 82:1266–1270
de la Hoya M, Perez-Segura P, Van Orsouw N et al (2001) Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene. Int J Cancer 91:137–140
Beristain E, Martinez-Bouzas C, Guerra I et al (2007) Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. Breast Cancer Res Treat 106:255–262
den Dunnen JT, Paalman MH (2003) Standardizing mutation nomenclature: why bother? Hum Mutat 22:181–182
den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7–12
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 Spec No 1:R60–R66