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JCO:误读基因检测结果导致近半不必要的乳房切除术

2017-04-14 医牛资讯 医牛资讯

    近日,发表在《临床肿瘤学》杂志(Journal of Clinical Oncology,顶级肿瘤学期刊)上的一项调查显示,近半基因检测结果显示没有已知基因突变增加额外乳腺癌风险的女性选择了双乳切除手术。       斯坦福大学医学健康研究和政策副教授Dr. Allison Kurian表示,这结果让人非常惊讶,因为如果

近日,发表在《临床肿瘤学》杂志(Journal of Clinical Oncology,顶级肿瘤学期刊)上的一项调查显示,近半基因检测结果显示没有已知基因突变增加额外乳腺癌风险的女性选择了双乳切除手术。

斯坦福大学医学健康研究和政策副教授Dr. Allison Kurian表示,这结果让人非常惊讶,因为如果没有导致基因突变的因素,通常不对对女性进行乳房切除术。她认为许多女性和她们的医生都没有准确地理解和解释基因检测的结果。

目前的基因检测也经常检测不确定的突变,虽然这些基因不正常,但是它们的突变与特定的癌症无关,根据以前的研究结果,这些突变90%是无害的。对于乳腺癌来说,主要需要关注的突变基因是BRCA 1和2(增加未来患乳腺癌的风险)。在指南中明确建议,基因检测具有不确定突变的女性不要像对BRCA 1或者BRCA 2检测为阳性的女性一样选择乳房切除,这会导致更多地侵入性手术。

Dr. Allison Kurian指出,在她们的调查中只有一半进行检测的女性与遗传咨询师讨论了她们的检测结果,有些女性做出切除手术的决定时,她们并没有完全了解她们与平均风险没有差异。更糟糕地是,只有7%到10%到女性与多名医疗人员讨论她们到问题,征询多方意见。


原始出处:

Allison W. Kurian, Yun Li, Ann S. Hamilton,et al.Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.Journal of Clinical Oncology.

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    2018-01-12 lidong40
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    2017-06-15 1decafd9m46(暂无匿称)

    女性乳房的过度诊断治疗更容易受打击

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