Portal de Periódicos da CAPES

The role of ERCC2 polymorphisms in breast cancer risk

2006; Elsevier BV; Volume: 170; Issue: 1 Linguagem: Inglês

10.1016/j.cancergencyto.2006.04.017

1873-4456

Susana Silva, Guilherme Bezerra de Castro, Ana Faber, Marcelo Pires, Vanessa Cristina de Oliveira Souza, Ana Paula Azevedo, Marisa N. Cabral, Isabel Manita, Julieta Esperança Pina, José Rueff, Jorge Gaspar,

Genomics and Chromatin Dynamics

Breast cancer is the most common form of cancer in women. Despite the enormous number of cases, the exact causes of breast cancer remain elusive. Recent evidence that some DNA repair functions are haploinsufficient adds weight to the notion that variants in DNA-repair genes constitute part of the spectrum of defects contributing to cancer risk. The ERCC2 polymorphisms C23047G, C23051T, G23591A, and A35931C cause amino acid substitutions (Ile199Met, His201Tyr, Asp312Asn, and Lys751Gln), but there is still no direct biochemical evidence of their functional consequences, and some divergent results on the role of the variant alleles in DNA repair and breast cancer susceptibility have been reported [ 1 Hemminki K. Xu G. Angelini S. Snellman E. Jansen C.T. Lambert B. Hou S.M. XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ. Carcinogenesis. 2001; 22: 1185-1188 Crossref PubMed Scopus (93) Google Scholar , 2 Justenhoven C. Hamann U. Pesch B. Harth V. Rabstein S. Baisch C. Vollmert C. Illig T. Ko Y.D. Bruning T. Brauch H. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomarkers Prev. 2004; 13: 2059-2064 PubMed Google Scholar , 3 Kuschel B. Chenevix-Trench G. Spurdle A.B. Chen X. Hopper J.L. Giles G.G. McCredie M. Chang-Claude J. Gregory C.S. Day N.E. Easton D.F. Ponder B.A. Dunning A.M. Pharoah P.D. Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005; 14: 1828-1831 Crossref PubMed Scopus (25) Google Scholar , 4 Lee S.A. Lee K.M. Park W.Y. Kim B. Nam J. Yoo K.Y. Noh D.Y. Ahn S.H. Hirvonen A. Kang D. Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp Mol Med. 2005; 37: 86-90 Crossref PubMed Scopus (33) Google Scholar ].