Molecular genetics analysis of hereditary breast and ovarian cancer patients in India

doi:10.1186/1897-4287-7-13

Hereditary Cancer in Clinical Practice

Volume 7

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Soumittra N
Meenakumari B
Parija T
Sridevi V
Nancy KN
Swaminathan R
Rajalekshmy KR
Majhi U
Rajkumar T

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Soumittra N
Meenakumari B
Parija T
Sridevi V
Nancy KN
Swaminathan R
Rajalekshmy KR
Majhi U
Rajkumar T
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Research

Molecular genetics analysis of hereditary breast and ovarian cancer patients in India

Nagasamy Soumittra¹^,2^* , Balaiah Meenakumari¹ , Tithi Parija¹ , Veluswami Sridevi³ , Karunakaran N Nancy¹ , Rajaraman Swaminathan⁴ , Kamalalayam R Rajalekshmy⁵ , Urmila Majhi⁶ and Thangarajan Rajkumar¹

¹Department of Molecular Oncology, Cancer Institute (WIA), Chennai, India

²Currently: Department of Genetics, Sankara Nethralaya, Chennai, India

³Department of Surgical Oncology, Cancer Institute (WIA), Chennai, India

⁴Department of Epidemiology and Tumour Registry, Cancer Institute (WIA), Chennai, India

⁵Department of Hematology and Immunology, Cancer Institute (WIA), Chennai, India

⁶Department of Pathology, Cancer Institute (WIA), Chennai, India

author email corresponding author email* Contributed equally

Hereditary Cancer in Clinical Practice 2009, 7:13doi:10.1186/1897-4287-7-13


Published:	6 August 2009

Abstract

Background

Hereditary cancers account for 5–10% of cancers. In this study BRCA1, BRCA2 and CHEK2*(1100delC) were analyzed for mutations in 91 HBOC/HBC/HOC families and early onset breast and early onset ovarian cancer cases.

Methods

PCR-DHPLC was used for mutation screening followed by DNA sequencing for identification and confirmation of mutations. Kaplan-Meier survival probabilities were computed for five-year survival data on Breast and Ovarian cancer cases separately, and differences were tested using the Log-rank test.

Results

Fifteen (16%) pathogenic mutations (12 in BRCA1 and 3 in BRCA2), of which six were novel BRCA1 mutations were identified. None of the cases showed CHEK2*1100delC mutation. Many reported polymorphisms in the exonic and intronic regions of BRCA1 and BRCA2 were also seen. The mutation status and the polymorphisms were analyzed for association with the clinico-pathological features like age, stage, grade, histology, disease status, survival (overall and disease free) and with prognostic molecular markers (ER, PR, c-erbB2 and p53).

Conclusion

The stage of the disease at diagnosis was the only statistically significant (p < 0.0035) prognostic parameter. The mutation frequency and the polymorphisms were similar to reports on other ethnic populations. The lack of association between the clinico-pathological variables, mutation status and the disease status is likely to be due to the small numbers.