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不同医学专业的医生在 BRCA1 基因突变携带者的管理建议方面存在显著差异。

Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers.

机构信息

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.

出版信息

Breast Cancer Res Treat. 2011 Aug;129(1):221-7. doi: 10.1007/s10549-011-1449-7. Epub 2011 Apr 5.

Abstract

The National Comprehensive Cancer Network (NCCN) has published guidelines for hereditary breast and ovarian cancer syndrome (HBOCS) management. Little data exist on compliance with these guidelines among different physician specialties. We performed an on-line case-based survey by randomly sampling physicians from five specialties, Family Medicine (FM), Obstetrics and Gynecology (OG), General Surgery (GS), Internal Medicine (IM), and Hematology and Oncology (HO). The physicians (n = 225) were asked to provide HBOCS management of healthy women ages 40-42 in the presence of a familial BRCA1 mutation. For women negative for the BRCA1 mutation, 59% of the physicians recommended appropriate surveillance although with significant differences among specialties; P = 0.01. Using an aggregate screening intensity score, physicians clearly recommended more intense screening for mutation positive than negative women (P < 0.0001), but only 16% of physicians followed NCCN guidelines for BRCA1-positive women. Seventy-six percent of all physicians recommended breast MRI with significant variation among specialties ranging from 62% of FM to 89% of OG (P = 0.0020). Similarly, 63% of physicians recommended prophylactic oophorectomy, with 76 and 78% of GS and OG compared to 38% of IM (P < 0.0001) and 57% recommended prophylactic mastectomy ranging from 84% of HO to 32% of FM (P < 0.0001). Independent of specialty, respondents with BRCA testing experience recommended more intense management than those without; P = 0.021. Management recommendations of BRCA1 mutation carriers are not consistent with NCCN guidelines and vary by medical specialty and genetic testing experience. Targeted education of physicians by specialty is needed, so that optimal management is offered to these high-risk women.

摘要

美国国家综合癌症网络(NCCN)发布了遗传性乳腺癌和卵巢癌综合征(HBOCS)管理指南。关于不同医学专业医生遵循这些指南的情况,相关数据很少。我们对来自五个专业(家庭医学、妇产科、普通外科、内科和血液学和肿瘤学)的医生进行了在线基于案例的调查。调查要求医生在存在家族性 BRCA1 突变的情况下,为 40-42 岁的健康女性提供 HBOCS 管理建议。对于 BRCA1 突变阴性的女性,尽管各专业之间存在显著差异,但 59%的医生建议进行适当的监测;P=0.01。使用综合筛查强度评分,医生清楚地建议对突变阳性女性进行比阴性女性更密集的筛查(P<0.0001),但只有 16%的医生遵循 NCCN 对 BRCA1 阳性女性的指南。所有医生中有 76%建议进行乳腺 MRI,各专业之间存在显著差异,从家庭医学的 62%到妇产科的 89%(P=0.0020)。同样,63%的医生建议预防性卵巢切除术,普通外科和妇产科的比例分别为 76%和 78%,而内科为 38%(P<0.0001),57%建议预防性乳房切除术,从血液学和肿瘤学的 84%到家庭医学的 32%(P<0.0001)。独立于专业,有 BRCA 检测经验的受访者比没有经验的受访者推荐更密集的管理;P=0.021。BRCA1 突变携带者的管理建议与 NCCN 指南不一致,并且因医学专业和基因检测经验而异。需要对医生进行专业针对性的教育,以便为这些高危女性提供最佳管理。

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本文引用的文献

1
Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.
Genet Med. 2011 Feb;13(2):148-54. doi: 10.1097/GIM.0b013e318207f564.
2
Genetic/familial high-risk assessment: breast and ovarian.
J Natl Compr Canc Netw. 2010 May;8(5):562-94. doi: 10.6004/jnccn.2010.0043.
3
Cancer surveillance behaviors in women presenting for clinical BRCA genetic susceptibility testing.
Oncol Nurs Forum. 2009 Mar;36(2):E57-67. doi: 10.1188/09.onf.e57-e67.
5
The utility of MRI for the screening and staging of breast cancer.
Int J Clin Pract. 2008 Mar;62(3):450-3. doi: 10.1111/j.1742-1241.2007.01677.x. Epub 2008 Jan 12.
7
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89. doi: 10.3322/canjclin.57.2.75.
8
Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians.
J Med Genet. 2005 Oct;42(10):749-55. doi: 10.1136/jmg.2004.030296. Epub 2005 Mar 22.
10
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.
J Clin Oncol. 2004 Mar 15;22(6):1055-62. doi: 10.1200/JCO.2004.04.188. Epub 2004 Feb 23.

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