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

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Abstract

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.

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Acknowledgments

We are deeply indebted to the patients who accepted to participate in this study. The first author is a recipient of Senior Research Fellowship from Indian Council of Medical Research (ICMR).

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Authors and Affiliations

  1. Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, Kerala, 695011, India

    Vani Syamala, Leelakumari Sreeja, Volga S. Syamala, Praveenkumar B. Raveendran, Hariharan Sreedharan & Ravindran Ankathil

  2. Department of Microbiology and Immunology, Emory Vaccine Center and Yerkes National Primate Research Center, Emory University School of Medicine, Atlanta, GA, USA

    B. Vinodkumar

  3. Division of Radiation Oncology, Regional Cancer Centre, Thiruvananthapuram, Kerala, 695011, India

    Ratheesan Kuttappan & Lekshmi Balakrishnan

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  1. Vani Syamala
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  2. Leelakumari Sreeja
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  3. Volga S. Syamala
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  4. B. Vinodkumar
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  9. Ravindran Ankathil
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Correspondence to Ravindran Ankathil.

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Syamala, V., Sreeja, L., Syamala, V.S. et al. Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast–ovarian cancer families from Kerala, South India. J Cancer Res Clin Oncol 133, 867–874 (2007). https://doi.org/10.1007/s00432-007-0229-6

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  • DOI: https://doi.org/10.1007/s00432-007-0229-6

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