JCO：三分之一的乳腺癌患者更担心遗传风险

  最近，一项发表在国际杂志Journal of Clinical Oncology上的研究报告中，来自密歇根大学综合癌症研究中心的研究人员通过研究表示，许多患乳腺癌的女性更担心她们是否会有患其它癌症的遗传风险或者她们所爱的人是否存在患癌遗传风险。
  总的来讲，35%的乳腺癌患者往往会表达出一种强烈的愿望来进行遗传检测，而这些女性中有43%的人并没有同健康相关的专家进行相关的讨论，而本文研究则发现，具有强烈愿望进行检测的少数民族患者相比白人而言或许并不太可能去同专家讨论自己的疾病，尽管研究表明少数病人携带遗传突变的风险并不低。
  Reshma Jagsi博士指出，我们的研究表明未来迫切需要对患者机体的遗传风险进行讨论评估，大约有5%至10%的乳腺癌患者都会遗传诱发癌症的遗传突变，而许多进行遗传检测的女性则存在遗传性突变的风险则较低；本文研究中研究者对进行治疗的1536名乳腺癌患者进行了相关调查，这些病人都有非常强烈的愿望进行遗传检测，因为她们担心其他家庭成员在将来是是否也有可能患乳腺癌，而当对幸存者进行长期跟踪调查评估时，这些患者更易于担心自身的患病风险；在未满足遗传检测需求的患者中大约有一半个体都非常担心乳腺癌，而仅有四分之一的个体表达出了自身的这种担心。
  研究者Jagsi说道，通过对患者的遗传风险进行“寻找”研究者就可以更好地告知患者未来癌症的复发风险及患一种新型癌症的风险，这句可以潜在地帮助缓解个体的担忧，并且降低其对癌症风险的混淆；携带遗传风险的女性个体往往患第二种乳腺癌的风险较高，而开发新型的靶向疗法及预防性措施或许可潜在地帮助个体预防乳腺癌等疾病的发生。（转化医学网360zhyx.com）
  以上为转化医学网原创翻译整理，谢绝转载。如需转载，请联系 info@360zhyx.com
转化医学网推荐的原文摘要：

Concerns About Cancer Risk and Experiences With Genetic Testing in a Diverse Population of Patients With Breast Cancer
Journal of Clinical Oncology     doi: 10.1200/JCO.2014.58.5885
Reshma Jagsi⇑, Kent A. Griffith, Allison W. Kurian, Monica Morrow, Ann S. Hamilton, John J. Graff, Steven J. Katz and Sarah T. Hawley
Purpose To evaluate preferences for and experiences with genetic testing in a diverse cohort of patients with breast cancer identified through population-based registries, with attention to differences by race/ethnicity.

Methods We surveyed women diagnosed with nonmetastatic breast cancer from 2005 to 2007, as reported to the SEER registries of metropolitan Los Angeles and Detroit, about experiences with hereditary risk evaluation. Multivariable models evaluated correlates of a strong desire for genetic testing, unmet need for discussion with a health care professional, and receipt of testing.

Results Among 1,536 patients who completed the survey, 35% expressed strong desire for genetic testing, 28% reported discussing testing with a health care professional, and 19% reported test receipt. Strong desire for testing was more common in younger women, Latinas, and those with family history. Minority patients were significantly more likely to have unmet need for discussion (failure to discuss genetic testing with a health professional when they had a strong desire for testing): odds ratios of 1.68, 2.44, and 7.39 for blacks, English-speaking Latinas, and Spanish-speaking Latinas compared with whites, respectively. Worry in the long-term survivorship period was higher among those with unmet need for discussion (48.7% v 24.9%; P <.001). Patients who received genetic testing were younger, less likely to be black, and more likely to have a family cancer history.

Conclusion Many patients, especially minorities, express a strong desire for genetic testing and may benefit from discussion to clarify risks. Clinicians should discuss genetic risk even with patients they perceive to be at low risk, as this may reduce worry.