Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India.

Autor: Syamala, Vani, Sreeja, Leelakumari, Syamala, Volga S., Vinodkumar, B., Raveendran, Praveenkumar B., Sreedharan, Hariharan, Kuttappan, Ratheesan, Balakrishnan, Lekshmi, Ankathil, Ravindran
Předmět:
Zdroj: Journal of Cancer Research & Clinical Oncology; Nov2007, Vol. 133 Issue 11, p867-874, 8p, 2 Diagrams, 3 Charts
Abstrakt: Aim of the present study was to identify the genetic heterogeneity, prevalence and frequency of germline mutations of BRCA2 gene in Hereditary Breast/Ovarian cancer patients from Kerala, South India. We analyzed 102 Breast/Ovarian cancer patients from 96 breast and/ovarian cancer families for BRCA2 gene mutations using Conformation-Sensitive Gel Electrophoresis (CSGE) followed by sequencing. Sequence variations in BRCA2 gene were detected in 27 (26.4%) patients. Sixteen distinct sequence variants were detected of which 11 were (69%) in exon 11. We have identified two novel disease-causing frameshift mutations (c.4642delAA and c.4926insGACC) in two unrelated patients. Apart from this, fourteen distinct sequence variants were detected in 25 breast/ovarian cancer patients of which 8 (57%) were also novel. These include nine missense mutations, one silent mutation, one-nonsense mutation and three intronic variants. The results of this study suggest that germline mutations of BRCA2 gene account for rather small proportion of Hereditary Breast/Ovarian cancer in Kerala, South India. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: