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乳腺癌女性转诊至遗传学专业人员的国家综合癌症网络指南的遵循模式。

Adherence Patterns to National Comprehensive Cancer Network Guidelines for Referral of Women With Breast Cancer to Genetics Professionals.

作者信息

Stuckey Ashley, Febbraro Terri, Laprise Jessica, Wilbur Jennifer S, Lopes Vrishali, Robison Katina

机构信息

The Warren Alpert School of Medicine, Brown University, Providence, RI.

出版信息

Am J Clin Oncol. 2016 Aug;39(4):363-7. doi: 10.1097/COC.0000000000000073.

Abstract

OBJECTIVE

Genetic predisposition is responsible for 5% to 10% of breast cancer. The National Comprehensive Cancer Network (NCCN) established guidelines delineating appropriate candidates for genetic counseling. This study aims to determine referral patterns for genetic counseling in women who met such guidelines.

MATERIALS AND METHODS

Utilizing an institutional tumor registry, patients from an academic oncology program who met a subset of NCCN guidelines for genetic referrals between 2004 and 2010 were identified (breast cancer diagnosis ≤50 y without a known BRCA mutation). A retrospective chart review was conducted. Statistics were analyzed using SAS version 9.2.

RESULTS

A total of 314 patients were identified and 107 (34.1%) were referred for genetic counseling. Median age at diagnosis was younger for those referred versus not referred (43 and 46 y; P<0.0001). Women were more likely referred with a family history suspicious for an inherited cancer syndrome (67.3% vs. 36.2%; P<0.0001). There was no difference in stage at diagnosis, insurance, or race among women referred. Those patients who choose prophylactic contralateral mastectomy were likely to have been referred for genetic counseling (63.6% vs. 36.4%, P<0.0001). Among patients referred, 77.6% consulted with a genetics counselor, 95.2% underwent genetic testing, and 16.5% had a BRCA mutation.

CONCLUSIONS

Genetic counseling and testing is being underutilized in women who meet NCCN referral guidelines. Age and family history were noted to be predictive of referral for genetic evaluation. Further research is needed to determine additional factors that may impact not only referral rates but subsequent care for women with possible genetic predispositions to cancer.

摘要

目的

遗传易感性在5%至10%的乳腺癌病例中起作用。美国国立综合癌症网络(NCCN)制定了相关指南,明确了适合进行遗传咨询的对象。本研究旨在确定符合此类指南的女性的遗传咨询转诊模式。

材料与方法

利用机构肿瘤登记处,确定了2004年至2010年间来自一个学术肿瘤项目且符合NCCN遗传转诊部分指南的患者(乳腺癌诊断年龄≤50岁且无已知BRCA突变)。进行了回顾性病历审查。使用SAS 9.2版本进行统计分析。

结果

共确定了314例患者,其中107例(34.1%)被转诊进行遗传咨询。转诊患者的诊断时中位年龄低于未转诊患者(43岁和46岁;P<0.0001)。有可疑遗传性癌症综合征家族史的女性更有可能被转诊(67.3%对36.2%;P<0.0001)。转诊女性在诊断分期、保险或种族方面无差异。选择预防性对侧乳房切除术的患者更有可能被转诊进行遗传咨询(63.6%对36.4%,P<0.0001)。在被转诊的患者中,77.6%咨询了遗传咨询师,95.2%接受了基因检测,16.5%有BRCA突变。

结论

在符合NCCN转诊指南的女性中,遗传咨询和检测的利用不足。年龄和家族史被认为是遗传评估转诊的预测因素。需要进一步研究以确定可能不仅影响转诊率,还影响可能具有癌症遗传易感性女性后续治疗的其他因素。

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