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Updated: May 10, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

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スウェーデンのメラノーマに罹患しやすい家族におけるPOT1遺伝子検査:特定されたキャリアにおける生殖系変異の流行と腫瘍スペクトル

Konstantinos Papadakis1, Francesca Portelli2, Karina Schultz3

  • 1Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden. konstantinos.papadakis@ki.se.

Acta oncologica (Stockholm, Sweden)
|August 25, 2025
PubMed
まとめ

病原性POT1変種はスウェーデンの家族性メラノーマの症例では稀であり,遺伝性メラノーマにおける役割は限られていることを示唆している. しかし,POT1検査は,早期発症およびスピッツオイドの特徴を含む特定のメラノーマの特徴を持つ家族に利益をもたらす可能性があります.

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...