Galiatsatos Polymnia, Rothenmund Heidi, Aubin Sylvie, Foulkes William D
Division of Gastroenterology, Department of Medicine, Room E-110, Jewish General Hospital, McGill University, 3755 Cote-Ste-Catherine, Montreal, QC, H3T 1E2, Canada,
Dig Dis Sci. 2015 Aug;60(8):2246-50. doi: 10.1007/s10620-015-3626-8. Epub 2015 Mar 19.
Lynch syndrome is the most common hereditary colorectal cancer syndrome, conferring a heightened risk not only of colon cancer but also of various extracolonic tumors. Studies in hereditary breast cancer have shown a negative psychological impact for patients testing positive for BRCA1 or BRCA2 mutations, but there is a paucity of literature looking at psychosocial impact of LS testing for probands and families.
A literature search of PubMed English-language articles was performed using the keywords "Lynch syndrome" combined with "psychological impact," "depression," and "anxiety."
Lynch syndrome mutation carriers, whether or not they have had cancer, suffer a transient increase in depression and anxiety scores post-disclosure, which seem to normalize by 6-12 months. Younger patients with higher colorectal cancer risk perception, higher education level, married, and employed are more likely to accept genetic testing. Major motivators for testing are predicting one's own risk of cancer and risk to offspring. Carrier status influences family planning, and there is growing interest for preimplantation genetic diagnosis.
Psychosocial ramifications of LS mutation positivity need to be explored further.
林奇综合征是最常见的遗传性结直肠癌综合征,不仅会增加患结肠癌的风险,还会增加患各种结肠外肿瘤的风险。遗传性乳腺癌的研究表明,BRCA1或BRCA2基因突变检测呈阳性的患者会受到负面心理影响,但针对林奇综合征检测对先证者及其家族的社会心理影响的文献却很少。
使用关键词“林奇综合征”与“心理影响”、“抑郁”和“焦虑”相结合,对PubMed上的英文文章进行文献检索。
林奇综合征突变携带者,无论是否患过癌症,在披露病情后抑郁和焦虑评分都会短暂升高,6至12个月后似乎会恢复正常。结直肠癌风险认知较高、受教育程度较高、已婚且有工作的年轻患者更有可能接受基因检测。检测的主要动机是预测自身患癌风险和对后代的风险。携带者状态会影响计划生育,人们对植入前基因诊断的兴趣也在增加。
林奇综合征突变阳性的社会心理影响需要进一步探索。