假如有更多的基因检测......
2017/02/12
最新调查发现,结直肠癌遗传性易感基因突变的发生率为10%,比传统的认识高了7%。调查人员呼吁,假如有更多的基因检测,就不会遗漏7%的风险人群,还可以改善治疗后的护理。前几日,JAMA上的调查也发现,癌症患者对基因检测是想要却不可得。无论是JAMA还是JCO上的调查,都反映了基因检测在癌症患者中的普及不够到位。


一项包含上千名结直肠癌患者的研究揭示,大约10%的患者携带有增加癌症风险的基因突变,这比以往所认识的3%要高很多。相关结论发表在《Journal of Clinical Oncology》(简称JCO)杂志上。这项研究反映了通过基因检测来预测遗传风险的重要性——不仅有助于患者的治疗,还能预防高危家族成员发展相关疾病。

假如有更多的基因检测,就不会遗漏7%的风险人群


JAMA近期也公布了关于癌症基因检测的调查结果,发现2500名乳腺癌患者中,有三分之二希望得到基因检测,但实际上只有不到30%的患者能够获得检测。无论是JAMA还是JCO上的调查,都反映了基因检测在癌症患者中的普及不够到位。

基因检测对癌症患者而言确实很重要,但也不可盲目采纳,或者盲目地根据检测结果来接受不必要的手术。BMJ(《英国医学杂志》)上曾公布,继朱莉之后,乳腺癌风险基因检测的使用率大幅增加。JAMA Surgery杂志也曾报道称,受朱莉的影响,不必要的双侧乳房切除术的案例数量大到惊人。与朱莉一样,这些患者都希望通过双侧乳房切除术来降低基因突变带来的癌症风险。而科学家表示,手术可能并不总是有必要,一些患者其实还可以有更好的治疗选择。

总而言之,在考虑基因检测时,一定要多与医生沟通,听听医生是如何建议的。对于基因检测结果,遗传咨询也十分重要。

当前,市场上直接面向消费者的基因检测产品产品越来越多,种类也越来越广。在这种情况下,消费者一定要注意,不要被一些所谓的“算命”检测所诱惑。当有更多的基因检测时,一定要正确采纳。

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  • Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer

    Purpose Hereditary factors play an important role in colorectal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patients with CRC unselected for high-risk features (eg, early age at diagnosis, personal/family history of cancer or polyps, tumor microsatellite instability [MSI], mismatch repair [MMR] deficiency) is unknown. Patients and Methods We recruited 1,058 participants who received CRC care in a clinic-based setting without preselection for age at diagnosis, personal/family history, or MSI/MMR results. All participants underwent germline testing for mutations in 25 genes associated with inherited cancer risk. Each gene was categorized as high penetrance or moderate penetrance on the basis of published estimates of the lifetime cancer risks conferred by pathogenic germline mutations in that gene. Results One hundred five (9.9%; 95% CI, 8.2% to 11.9%) of 1,058 participants carried one or more pathogenic mutations, including 33 (3.1%) with Lynch syndrome (LS). Twenty-eight (96.6%) of 29 available LS CRCs demonstrated abnormal MSI/MMR results. Seventy-four (7.0%) of 1,058 participants carried non-LS gene mutations, including 23 (2.2%) with mutations in high-penetrance genes (five APC, three biallelic MUTYH, 11 BRCA1/2, two PALB2, one CDKN2A, and one TP53), 15 of whom lacked clinical histories suggestive of their underlying mutation. Thirty-eight (3.6%) participants had moderate-penetrance CRC risk gene mutations (19 monoallelic MUTYH, 17 APC*I1307K, two CHEK2). Neither proband age at CRC diagnosis, family history of CRC, nor personal history of other cancers significantly predicted the presence of pathogenic mutations in non-LS genes. Conclusion Germline cancer susceptibility gene mutations are carried by 9.9% of patients with CRC. MSI/MMR testing reliably identifies LS probands, although 7.0% of patients with CRC carry non-LS mutations, including 1.0% with BRCA1/2 mutations.

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