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Lynch syndrome: clinical approach

Author(s): Sara Campos

Journal: Acta Obstetrica e Ginecologia Portuguesa
ISSN 1646-5830

Around 2-3% of colorectal cancers occur in the context of the Lynch syndrome, which is due to germline mutations in one allele of mismatch repair genes. It is also associated with a high risk of extracolonic cancers, including gynecological, gastric, small bowel, biliopancreatic tract, urinary tract, skin and central nervous system. This review focuses on cancer risks, methods for early diagnosis and recommendations for the clinical management of affected families. The benefit of surveillance is only evident for colorectal and endometrial cancers, in which colonoscopy and transvaginal ultrasound with endometrial sampling may detect tumours at very early stages. Surveillance is also recommended for urinary tract and gastric cancer. Evidence supporting surveillance for other types of cancer is scarce, and it is typically not recommended. For individual who undergo surgical resection for cancer of the colon, total colectomy is favored. Prophylactic hysterectomy and bilateral salpingo-oophorectomy should be considered for women with Lynch syndrome who are past childbearing age, especially at the time of surgery for colorectal cancer.
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