Clinicoepidemilogical correlation of BRCA 1 and 2 mutations in carcinoma ovary - an Indian perspective
Introduction: All over the world in 2008, approximately 225,000 women were diagnosed with ovarian cancer, and 140,000 died from this disease.[1] Ovarian cancer is the second-most common gynecologic malignancy in the developed countries. In the developing countries, it is the third-most common gyneco...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2019-01-01
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| Series: | Indian Journal of Medical and Paediatric Oncology |
| Subjects: | |
| Online Access: | http://www.ijmpo.org/article.asp?issn=0971-5851;year=2019;volume=40;issue=4;spage=484;epage=490;aulast=Rathore |
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| Summary: | Introduction: All over the world in 2008, approximately 225,000 women were diagnosed with ovarian cancer, and 140,000 died from this disease.[1] Ovarian cancer is the second-most common gynecologic malignancy in the developed countries. In the developing countries, it is the third-most common gynecologic malignancy after breast and cervical cancer with an incidence of 5.0/100,000 and a mortality rate of 3.1/100,000. Women with BRCA1 gene mutations typically develop ovarian cancer at an earlier age than other women, with an average age at diagnosis of 50-year-old while for patients with BRCA2 mutation carriers it is 60 years, similar to the general population. Aim and Objective: The aim of this study is to study the incidence, clinical profile, and outcomes of a patient with BRCA 1 and BRCA 2 mutation in carcinoma ovary and its comparison with patients without mutation. Results: Out of total 50 patients, 45 (90%) were BRCA negative and rest fi ve (10%) were BRCA positive. Of the five patients, only two (4% of total) had pathological mutations while the rest of three patients had benign mutations only. Overall median age of presentation was 61 years for BRCA-negative patients and 38 years for BRCA-positive patients. Most of the patients presented in Stage III (23 out of 50; 46%), while the second-most common presentation was in Stage IV (34%). In our study, we had an overall mortality of one patient who was BRCA negative, in Stage IV while no mortality was noted in BRCA positive subset of patients. Conclusion: This was a single center-based and spanned over 24 months involving limited number of patients with ovarian cancer with maximum follow-up for 9 months. |
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| ISSN: | 0971-5851 0975-2129 |