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How can we improve the quality of reporting family history in colorectal cancer care? (And why does it matter?)

机译:我们如何提高在大肠癌治疗中报告家族史的质量? (为什么重要?)

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摘要

Family history & colorectal cancer Family history (FH) represents the integration of shared genomic and environmental risk factors. First-degree relatives share half of their genomic information, as well as ways and places of living and working. Even if the molecular etiology of a condition is not fully understood, FH offers insight into disease susceptibility, and may provide a rational basis for personalizing preventive and healthcare interventions. FH is, of course, the primary marker of genetic syndromes such as familial adenomatous polyposis and Lynch syndrome (hereditary nonpolyposis colorectal cancer [CRC]), but these account for no more than 6% of all CRC cases . To this familial clustering should be added thought to be due to (as yet unidentified) genetic variants, which may account for a further 15-25%. Setting aside known genetic syndromes, however, there is clear evidence that having just one affected first-degree relative raises a person's lifetime risk of CRC by a factor of approximately two, further increased with additional affected relatives and earlier age of diagnosis. There is also evidence of longer survival in colon (but not rectal) cancer patients with a positive FH , although this has not been confirmed in all studies. It has also been observed that CRC patients with a positive FH may have a higher incidence of secondary cancers. These findings are thought-provoking, but require further investigation.
机译:家族史和结直肠癌家族史(FH)代表了共享的基因组和环境风险因素的整合。一级亲戚分享他们一半的基因组信息,以及居住和工作的方式和地点。即使尚未完全了解疾病的分子病因,FH仍可洞悉疾病的易感性,并可为个性化预防和保健干预措施提供合理的基础。当然,FH是遗传综合征的主要标志物,例如家族性腺瘤性息肉病和Lynch综合征(遗传性非息肉病性结直肠癌[CRC]),但占所有CRC病例的比例不超过6%。此外,还应考虑到家族遗传是由于(尚未确定的)遗传变异引起的,其可能占15-25%。但是,撇开已知的遗传综合症,有明确的证据表明,只有一名受影响的一级亲属会使人一生的CRC风险增加大约两倍,而随着其他受影响的亲属和诊断年龄的增加,这一风险会进一步增加。也有证据表明FH阳性的结肠癌(而非直肠癌)患者的生存期更长,尽管尚未在所有研究中均得到证实。还已经观察到,FH阳性的CRC患者可能具有更高的继发性癌症发病率。这些发现令人发人深省,但需要进一步调查。

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