METHOD FOR DETERMINING RISK OF DEVELOPING LUNG ADENOCARCINOMA AND/OR LUNG SQUAMOUS CELL CARCINOMA

To determine the risk of developing lung adenocarcinoma and/or lung squamous cell carcinoma with high accuracy by detecting a genetic mutation with higher sensitivity, higher efficiency, and lower cost from a specimen derived from a test subject who is selected from a diverse range of subjects, rega...

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Hauptverfasser: NARUOKA AKANE, YAMAGUCHI KEN, ONAMI SUMIKO, URAGAMI KENICHI, NAGASHIMA TAKASHI, ONAMI SHUMPEI, MIZUGUCHI MAKI, MARUYAMA KOJI, ISAKA MITSUHIRO, HATAKEYAMA KEIICHI, AKIYAMA YASUTO, ODE YASUHISA, SHIMODA YUJI, OSHIMA KEIICHI
Format: Patent
Sprache:eng ; jpn
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Zusammenfassung:To determine the risk of developing lung adenocarcinoma and/or lung squamous cell carcinoma with high accuracy by detecting a genetic mutation with higher sensitivity, higher efficiency, and lower cost from a specimen derived from a test subject who is selected from a diverse range of subjects, regardless of gender, smoking status, and the like.SOLUTION: The risk of developing lung adenocarcinoma and/or lung squamous cell carcinoma is determined by a method comprising: detecting the presence or absence of a homozygous whole-gene deletion mutation of the CYP2A6 gene in the germline in a biological sample collected from a test subject; and if the mutation is present, determining that the test subject has a higher risk of developing lung adenocarcinoma than the risk of developing lung squamous cell carcinoma.SELECTED DRAWING: None 【課題】本発明は、性別や喫煙の有無等に制限されない多様な被験者を対象として、被験者由来の検体からより高感度、高効率、かつ低コストに遺伝子変異を検出し、高精度に肺腺がん及び/又は肺扁平上皮がんの発症リスクを判定することを課題とする。【解決手段】被験者から採取した生体試料中の、生殖細胞系列におけるCYP2A6遺伝子のホモ全遺伝子欠失変異の有無を検出すること、及び前記変異が有る場合、前記被験者は肺扁平上皮がんの発症リスクよりも肺腺がんの発症リスクを高く有すると判定すること、を含む方法によって、肺腺がん及び/又は肺扁平上皮がんの発症リスクを判定する。【選択図】なし