J.Jpn. Surg. Soc.. 119(2): 172-179, 2018

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Feature topic

SIGNIFICANCE OF GENETIC TESTING IN THE FIELD OF GASTROINTESTINAL TRACT SURGERY

Cancers are caused by mutations induced by environmental factors or resulting from DNA replication errors. In addition to those, genetic factors are responsible for carcinogenesis in family members with germline mutations. Since pathogenic gene mutation carriers with hereditary gastrointestinal cancer syndrome harbor multiple cancers at an early age, vigilant surveillance, specific genetic testing, and genetic counseling contribute to the early detection of cancer, early treatment, and improvement of the quality of life and patient outcome. The current status of medical care and support systems for patients with these syndromes in Japan remains insufficient. In addition to medical oncologists and gastroenterologists, gastrointestinal surgeons should be familiar with these syndromes. If there is doubt about the presence of these syndromes, consultation with genetic specialists is required. While the development of next-generation sequencing devices is expected to identify unknown causative genes and pathogenic mutations, the establishment of medical care systems for patients with these syndromes is essential, with careful consideration of the medical, psychological, and ethical problems involved. In this review, we focus on diagnosis with genetic testing for the major disease entities comprising hereditary gastrointestinal cancer syndrome, such as familial adenomatous polyposis, Lynch syndrome, hereditary diffuse gastric cancer, and Li-Fraumeni syndrome.

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