BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer.
BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer.
复制标题
DOI：
10.1001/jamaoncol.2015.5941
复制
发表时间：
2016-06-01
期刊：
影响因子：
28.4
通讯作者：
Partridge, Ann H.
中科院分区：
文献类型：
--
作者：
Rosenberg, Shoshana M.;Ruddy, Kathryn J.;Tamimi, Rulla M.;Gelber, Shari;Schapira, Lidia;Come, Steven;Borges, Virginia F.;Larsen, Bryce;Garber, Judy E.;Partridge, Ann H.
建议诊断患有乳腺癌的年轻女性进行 BRCA 检测，但人们对检测相关决策以及结果如何影响年轻患者的治疗决策知之甚少。描述年轻乳腺癌女性中基因检测的使用模式及其对治疗决策的影响。对 2006 年 11 月至 2014 年 12 月期间收集的数据进行横断面分析，作为年轻女性乳腺癌研究（一项正在进行的前瞻性队列研究）的一部分。十一个学术和社区医疗中心。 897 名 40 岁及以下的女性接受了乳腺癌诊断。 1) BRCA检测的使用频率和趋势； 2) 如何利用遗传信息为 BRCA 突变检测呈阳性和阴性的女性做出治疗决策。 87% 的女性在诊断后一年内报告进行了 BRCA 检测，2006 年至 2013 年间，确诊女性的检测频率从 77% 增加到 95%。在未经检测的女性中，27% (32/117) 没有报告与提供者讨论过她们可能携带突变的可能性，37% (43 /117) 正在考虑将来进行检测。大约 30% (248/831) 的女性表示，对遗传风险的了解或担忧影响了治疗决策；在这些女性中，86%的突变携带者和51%的非携带者选择了双侧乳房切除术。很少有女性报告说辅助治疗决策受到遗传风险担忧的影响。患有乳腺癌的年轻女性的 BRCA1 和 2 突变检测率正在增加。鉴于对遗传风险的了解/担忧会影响手术决策，并可能影响全身治疗试验的资格，因此应根据 NCCN 指南向所有年轻乳腺癌患者提供咨询并提供基因检测。
BRCA testing is recommended for young women diagnosed with breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients. To characterize genetic testing patterns of utilization and the impact on treatment decision-making among young women with breast cancer. Cross-sectional analysis of data collected between November 2006 and December 2014 as part of the Young Women's Breast Cancer Study, an ongoing prospective cohort study. Eleven academic and community medical centers. 897 women, age 40 and younger at breast cancer diagnosis. 1) Frequency and trends in the utilization of BRCA testing; 2) how genetic information is used to make treatment decisions among women who test positive vs. test negative for a BRCA mutation. 87% of women reported BRCA testing by one year post-diagnosis, with the frequency of testing increasing among women diagnosed between 2006 and 2013 from 77% to 95%. Among untested women, 27% (32/117) did not report discussion of the possibility that they might have a mutation with a provider, and 37% (43 /117) were thinking of testing in the future. Approximately 30% (248/831) of women said that knowledge or concern about genetic risk influenced treatment decisions; among these women, 86% of mutation carriers, and 51% of non-carriers chose bilateral mastectomy. Fewer women reported that adjuvant treatment decisions were influenced by genetic risk concern. Rates of BRCA1 and 2 mutation testing are increasing in young women with breast cancer. Given that knowledge/concern about genetic risk influences surgical decisions and may affect systemic therapy trial eligibility, all young breast cancer patients should be counseled and offered genetic testing, consistent with NCCN guidelines.
登录
查看更多内容
影响因子：
--
作者：
Weitzel, JN;McCaffrey, SM;Cullinane, CA
通讯作者：
Cullinane, CA
影响因子：
39.2
作者：
Rosenberg SM;Tracy MS;Meyer ME;Sepucha K;Gelber S;Hirshfield-Bartek J;Troyan S;Morrow M;Schapira L;Come SE;Winer EP;Partridge AH
通讯作者：
Partridge AH
影响因子：
45.3
作者：
Nichols, Hazel B.;de Gonzalez, Amy Berrington;Anderson, William F.
通讯作者：
Anderson, William F.
影响因子：
120.7
作者：
Kurian, Allison W.;Lichtensztajn, Daphne Y.;Gomez, Scarlett L.
通讯作者：
Gomez, Scarlett L.
DOI：
10.1186/s13058-014-0442-6
发表时间：
2014-09-19
期刊：
Breast cancer research : BCR
影响因子：
--
作者：
Evans DG;Barwell J;Eccles DM;Collins A;Izatt L;Jacobs C;Donaldson A;Brady AF;Cuthbert A;Harrison R;Thomas S;Howell A;FH02 Study Group;RGC teams;Miedzybrodzka Z;Murray A
通讯作者：
Murray A