BRCA1とBRCA2の2つの遺伝子は家族性乳癌と関連しており、遺伝性乳癌の9割に及ぶとされる。これらの遺伝子が発現している女性は、そうでない女性に比べて乳癌に罹患するリスクが極めて高い。これを「遺伝性乳癌卵巣癌症候群 (Hereditary Breast and Ovarian Cancer syndrome, HBOC)」と呼ぶ。比較的若年で乳癌を発症し、しかもトリプルネガティブ乳癌であることが多い。このため日本では、HBOCが疑われる乳癌患者に対する遺伝子検査と、HBOCと診断され乳癌または卵巣癌を発症した患者に対する予防的手術は、2020年より一部が保険適応となっている[19]。
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