Science editor Amy H from Santa Clarita, California, was aware of her immediate family’s heavy cancer history so it came as no surprise to her when she was diagnosed with cancer—a stage 1 tumor in the transverse colon. However, nagging questions remained: Did lifestyle, environment, or other factors play a role in her diagnosis, or could her cancer possibly have been tied to a genetic history?

A new study has found that her uncertainty and anxiety are not uncommon: Most patients with cancer do not undergo germline testing to learn if their cancer may have been associated with an inherited gene mutation. The study appears in the Journal of the American Medical Association (doi:10.1001/jama.2023.9526).

来自加利福尼亚州圣克拉丽塔的科学编辑 Amy H 知道她的直系亲属有严重的癌症病史，因此当她被诊断出患有癌症（横结肠的一期肿瘤）时，她并不感到惊讶。然而，挥之不去的问题仍然存在：生活方式、环境或其他因素是否在她的诊断中发挥了作用，或者她的癌症是否可能与遗传史有关？

一项新的研究发现，她的不确定性和焦虑并不少见：大多数癌症患者都没有接受种系测试来了解他们的癌症是否可能与遗传基因突变有关。该研究发表在《美国医学会杂志》上 (doi:10.1001/jama.2023.9526)。