PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
PURPOSE: Aim of the present study was to identify the genetic heterogeneity, prevalence and frequency of germline mutations of BRCA2 gene in Hereditary Breast/Ovarian cancerpatients from Kerala, South India. METHODS: We analyzed 102 Breast/Ovarian cancerpatients from 96 breast and/ovarian cancer families for BRCA2 gene mutations using Conformation-Sensitive Gel Electrophoresis (CSGE) followed by sequencing. RESULTS: 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 cancerpatients of which 8 (57%) were also novel. These include nine missense mutations, one silent mutation, one-nonsense mutation and three intronic variants. CONCLUSIONS: 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.
Authors: Miguel de la Hoya; Ana Osorio; Javier Godino; Sara Sulleiro; Alicia Tosar; Pedro Perez-Segura; Cristina Fernandez; Raquel Rodríguez; Eduardo Díaz-Rubio; Javier Benítez; Peter Devilee; Trinidad Caldés Journal: Int J Cancer Date: 2002-02-01 Impact factor: 7.396
Authors: L S Friedman; S A Gayther; T Kurosaki; D Gordon; B Noble; G Casey; B A Ponder; H Anton-Culver Journal: Am J Hum Genet Date: 1997-02 Impact factor: 11.025
Authors: D Ford; D F Easton; M Stratton; S Narod; D Goldgar; P Devilee; D T Bishop; B Weber; G Lenoir; J Chang-Claude; H Sobol; M D Teare; J Struewing; A Arason; S Scherneck; J Peto; T R Rebbeck; P Tonin; S Neuhausen; R Barkardottir; J Eyfjord; H Lynch; B A Ponder; S A Gayther; M Zelada-Hedman Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025
Authors: S A Gayther; J Mangion; P Russell; S Seal; R Barfoot; B A Ponder; M R Stratton; D Easton Journal: Nat Genet Date: 1997-01 Impact factor: 38.330
Authors: T Peelen; M van Vliet; A Bosch; G Bignell; H F Vasen; J G Klijn; H Meijers-Heijboer; M Stratton; G J van Ommen; C J Cornelisse; P Devilee Journal: Br J Cancer Date: 2000-01 Impact factor: 7.640
Authors: E Thirthagiri; S Y Lee; P Kang; D S Lee; G T Toh; S Selamat; S-Y Yoon; N A Mohd Taib; M K Thong; C H Yip; S H Teo Journal: Breast Cancer Res Date: 2008-07-16 Impact factor: 6.466