近日,，科學(xué)家建議無論家族史情況如何,，診斷患有非黏液性卵巢癌婦女進(jìn)行生殖系BRCA1/2測試，相關(guān)研究論文刊登在Journal of Clinical Oncology雜志上,。
為了研究生殖系BRCA1/2突變對(duì)卵巢癌的作用,，澳大利亞墨爾本東中彼得麥卡勒姆癌癥中心Kathryn Alsop等人進(jìn)行了一項(xiàng)病例對(duì)照研究,，該研究納入篩選出的1001名非黏液性卵巢癌婦女,，科學(xué)家研究分析了生殖系的BRCA1和BRCA2基因突變情況。
研究人員發(fā)現(xiàn)14.1％的患者表現(xiàn)出BRCA1/ 2生殖系突變,。其中,，16.6％的有漿液性癌和44％患者沒有任何乳腺癌或卵巢癌家族史。沒有生殖系突變的婦女患者,，卵巢癌疾病無進(jìn)展,，總生存期也有所改善。
我們的研究結(jié)果中所有侵入性卵巢癌患者的基因檢測的結(jié)果表明BRCA狀態(tài)的測量非常重要,，應(yīng)該進(jìn)入臨床常用檢測指標(biāo)之列,。（生物谷：Bioon.com）
doi:10.1200/JCO.2011.39.8545
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BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation–Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group
Kathryn Alsop, Sian Fereday, Cliff Meldrum, Anna deFazio, Catherine Emmanuel, Joshy George, et al.
Purpose The frequency of BRCA1 and BRCA2 germ-line mutations in women with ovarian cancer is unclear; reports vary from 3% to 27%. The impact of germ-line mutation on response requires further investigation to understand its impact on treatment planning and clinical trial design.
Patients and Methods Women with nonmucinous ovarian carcinoma (n = 1,001) enrolled onto a population-based, case-control study were screened for point mutations and large deletions in both genes. Survival outcomes and responses to multiple lines of chemotherapy were assessed.
Results Germ-line mutations were found in 14.1% of patients overall, including 16.6% of serous cancer patients (high-grade serous, 22.6%); 44% had no reported family history of breast or ovarian cancer. Patients carrying germ-line mutations had improved rates of progression-free and overall survival. In the relapse setting, patients carrying mutations more frequently responded to both platin- and nonplatin-based regimens than mutation-negative patients, even in patients with early relapse after primary treatment. Mutation-negative patients who responded to multiple cycles of platin-based treatment were more likely to carry somatic BRCA1/2 mutations.
Conclusion BRCA mutation status has a major influence on survival in ovarian cancer patients and should be an additional stratification factor in clinical trials. Treatment outcomes in BRCA1/2 carriers challenge conventional definitions of platin resistance, and mutation status may be able to contribute to decision making and systemic therapy selection in the relapse setting. Our data, together with the advent of poly(ADP-ribose) polymerase inhibitor trials, supports the recommendation that germ-line BRCA1/2 testing should be offered to all women diagnosed with nonmucinous, ovarian carcinoma, regardless of family history.
