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BRCA1 and BRCA2 Mutations in Carcinoma Ovary: A Prospective Cohort Study

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Indian Journal of Gynecologic Oncology Aims and scope Submit manuscript

Abstract

Purpose

Epithelial ovarian cancer (EOC) is one of the leading fatal gynaecologic malignancies. The paradigm is shifting towards understanding of the molecular biology and genomics of the disease and exploiting them as a therapeutic potential.

Methods

We conducted a prospective observational analysis with newly diagnosed EOC unselected for a family or personal history of breast or ovarian cancer to estimate the period prevalence of germline BRCA1 and BRCA2 mutations in patients with EOC and compare the clinicopathological characteristics and outcome.

Results

Between October 2019 and October 2021, 100 consecutive patients of newly diagnosed EOC who agreed to undergo BRCA mutation testing after counselling were enrolled in the study. Our study reported 30% incidence of germline BRCA mutation, whereas variants of undetected significance (VUS) was reported in 4 patients. 73.33% of the patients had (22/30) BRCA 1 gene mutations and 26.67% (8/30) of the patients harboured mutations in BRCA 2 gene. Expectedly frameshift mutations were the commonest among pathogenic alterations. 22.7% patients of BRCA1 associated ovarian cancer had positive family history for ovarian cancer. 25% of BRCA 2 associated ovarian cancer had family history of breast cancer as compared to 4.5% BRCA wild type tumours (p value =  < 0.001).

Conclusions

Our study indicates that there is a high prevalence of germline BRCA1/2 mutations amongst patients of EOC so it is of paramount importance in recent times to improve knowledge and awareness about the gBRCA testing among clinicians and patients.

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Data availability

The data used for this research are available from the corresponding author upon reasonable request.

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Authors and Affiliations

  1. Department of Gynae Oncology, TMH, Mullanpur, Punjab, India

    Priyanka Makkar

  2. Department of Gynae Oncology, Artemis Hospital, Gurugram, India

    Amita Naithani & Rupinder Sekhon

  3. Department of Gynae Oncology, Manipal Hospital, Bengaluru, India

    R. Pratima

  4. Department of Statistics, Ram Lal Anand College, University of Delhi, Delhi, India

    Anurag Sharma

  5. Department of Laboratory, Molecular Diagnostics & Research, Rajiv Gandhi Cancer Institute & Research Centre, Delhi, India

    Anurag Mehta

Authors
  1. Priyanka Makkar
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  2. Amita Naithani
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  3. R. Pratima
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  4. Anurag Sharma
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  6. Rupinder Sekhon
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Correspondence to Amita Naithani.

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Makkar, P., Naithani, A., Pratima, R. et al. BRCA1 and BRCA2 Mutations in Carcinoma Ovary: A Prospective Cohort Study. Indian J Gynecol Oncolog 22, 82 (2024). https://doi.org/10.1007/s40944-024-00840-x

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  • DOI: https://doi.org/10.1007/s40944-024-00840-x

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