遺伝子バリアントを報告，交換するにあたっては，標準化された記載法が必須である．Human Genome Variation Society（HGVS）は2000 年に遺伝子バリアントの記載法を提案した．この記載法は何回かの改訂を経て次第に世 界標準となっている．本稿では最新の記載法に基づき，例をあげながら，初心者向けの解説を試みる．その1 回目と して塩基とアミノ酸の番号付けと塩基置換，アミノ酸置換を伴うバリアントについて概説する．最後に解説を補足す る意味でQ&A を設ける．

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Li-Fraumeni syndrome（LFS）is a rare autosomal dominant disorder characterized by a high penetrance of cancers of early-onset and diverse types such as soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma （ACC）, and leukemias. We experienced a 52 year-old female who had suffered from bilateral breast cancers, one of which was treated with radiation therapy. She was diagnosed with LFS by genetic testing. PET/CT was performed for surveillance and early lung cancer was found in the upper lobe of the right lung. We performed a right upper lobectomy （Adenocarcinoma pT1aN0M0, stageIA）. We reported a case of early lung cancer detected by surveillance PET/CT for LFS and reviewed the related literature.

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