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首页> 外文期刊>Indian Journal of Medical and Paediatric Oncology >Clinicoepidemilogical correlation of BRCA 1 and 2 mutations in carcinoma ovary - an Indian perspective
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Clinicoepidemilogical correlation of BRCA 1 and 2 mutations in carcinoma ovary - an Indian perspective

机译：BRCA 1和2突变在癌卵巢中的临床癫痫关联 - 印度观点

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Introduction: All over the world in 2008, approximately 225,000 women were diagnosed with ovarian cancer, and 140,000 died from this disease.sup[1]/sup 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.
机译：介绍：2008年全球各地，约225,000名妇女被诊断患有卵巢癌，并且从该疾病中死亡140,000。 [1] 卵巢癌是发达国家的第二次常见的妇科恶性肿瘤。在发展中国家，它是乳腺癌和宫颈癌后的第三次常见的妇科恶性肿瘤，发病率为5.0 / 100,000，死亡率为3.1 / 100,000。 BRCA1基因突变的妇女通常在早期的年龄比其他女性发育卵巢癌，诊断为50岁的诊断，而BRCA2突变载体的患者则为60年，类似于一般人群。目的和目标：本研究的目的是研究患者的患者和BRCA 2突变在癌卵巢中的发病，临床型材和结果及其与不突变的患者的比较。结果：50例患者中，45名（90％）BRCA阴性，休息（10％）是BRCA阳性。在五名患者中，只有两种（总量的4％）具有病理突变，而三名患者的其余部分仅具有良性突变。 BRCA阴性患者的整体中位数为61岁，BRCA阳性患者38岁。大多数患者在第三阶段呈现（23个中的50分），而第二次常见的呈现是第四阶段（34％）。在我们的研究中，我们的一个患者的整体死亡率是BRCA阴性的，阶段IV阶段，而BRCA患者的BRCA阳性子集没有死亡率。结论：这是一个基于单一的中心，并跨越24个月，涉及有限数量的卵巢癌患者，最大随访9个月。

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