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Updated: Sep 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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PALB2 c.3106G>C (p.Val1036Leu) 在家族癌症环境中,表明潜在的致病性

Philippos Apolinario Costa1, Nicole Hardy2, Patricia LoRusso3

  • 1Medical Oncology and Hematology, Yale School of Medicine, New Haven, Connecticut, USA philippos.costa@yale.edu.

BMJ case reports
|August 1, 2025
PubMed
概括

一个PALB2基因的生殖系变异与一个女性的卵巢癌和她的兄弟的前列腺癌有关. 分离分析支持其在遗传性癌症综合征中的致病作用.

关键词:
癌症干预干预 癌症干预遗传学 是一个遗传学.妇科癌症 妇科癌症查 (瘤学) 进行查

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