分子与遗传医学

Arg Allele of P53 Gene Codon72 is a Risk Factor for Breast Cancer in Senegalese Women

Abstract

Dia Y, Diop JPD, Ndiaye R, Dem A, Diouf D, Dieng MM, Ba SA, Tall FG, Ndour EM, Gueye PM, Ka S, Thiam F, Thiam A, Mbengue B, Diop G, Sembene M, Sall PL, Cisse A, Diop PA, Faye O and Dieye A

The proline rich domain of the P53 tumor suppressor protein is necessary for the induction of apoptosis. A common polymorphism, Proline-72-Arginine, alters structural and biological properties of P53 . The Arginine allele has been suggested as a risk factor for breast cancer. We investigate by association and segregation studies, the role of Arg72 allele as a risk factor in sporadic and familial breast cancer in Senegalese women. Eighty patients diagnosed with breast cancer followed up at the Curie Institute in Dakar, and eighty-five healthy controls without known cancer, were recruited after informed consent. For each individual, DNA was extracted from whole blood and codon 72 polymorphism genotyped by PCR-RFLP. Our results showed an increased risk for patients carrying Arg/ Arg and Arg/Pro genotypes compared to those carrying Pro/Pro (p<0.03). Similarly, the Arg allele was associated with an increased risk (p<0.03). The codon 72 of P53 might be involved in susceptibility to breast cancer.