J.Jpn. Surg. Soc.. 119(2): 157-163, 2018

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Feature topic

RECOGNITION AND MANAGEMENT OF HEREDITARY BREAST CANCER SYNDROMES

Some 5-10％ of breast cancers occur due to an inherited germline mutation. Hereditary breast and ovarian cancer syndrome is a type of familial breast cancer involving a mutation in BRCA1 or BRCA2, comprising about 3-5％ of total breast cancers. Methods of risk reduction are established, including surveillance, risk reduction surgery, and drug therapy. Many mutations are diagnosed when breast cancer has been discovered, and therefore it is necessary to manage the genetic aspect in parallel with cancer treatment. It is also known that the risk of secondary malignancy due to radiation exposure is extremely high in Li-Fraumeni syndrome, which involves a TP53 mutation. Since radiation therapy is essential after partial breast excision for sporadic breast cancer, mastectomy is recommended for Li-Fraumeni syndrome patients. Because it has an important role in determining treatment, timely genetic counseling is necessary while complying with patient choice. In the future, the interpretation of and approaches to handling large amounts of genetic information unexpectedly discovered by next-generation sequencers will required. The positioning of genetic information as a companion diagnostic tool is also expected, with customized individual patient support becoming more necessary.

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