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

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...

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Bibliographic Details
Published in:Journal of cancer research and clinical oncology 2007-11, Vol.133 (11), p.867-874
Main Authors: SYAMALA, Vani, SREEJA, Leelakumari, SYAMALA, Volga S, VINODKUMAR, B, RAVEENDRAN, Praveenkumar B, SREEDHARAN, Hariharan, KUTTAPPAN, Ratheesan, BALAKRISHNAN, Lekshmi, ANKATHIL, Ravindran
Format: Article
Language:English
Subjects:
Adult
Aged
Antineoplastic agents
Biological and medical sciences
Breast cancer
Breast Neoplasms - genetics
Case-Control Studies
DNA Mutational Analysis
Female
Female genital diseases
Frameshift Mutation
Genes, BRCA2
Genetic disorders
Genetic Predisposition to Disease
Germ-Line Mutation
Gynecology. Andrology. Obstetrics
Humans
India - epidemiology
Male
Mammary gland diseases
Medical sciences
Middle Aged
Mutation
Mutation, Missense
Ovarian cancer
Ovarian Neoplasms - genetics
Pharmacology. Drug treatments
Prevalence
Tumors
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Summary: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.
ISSN:0171-5216
1432-1335
DOI:10.1007/s00432-007-0229-6