Genotype matters: Personalized screening recommendations for germline variants.
作者信息
Hernandez Adela Rodriguez, Scheib Rochelle, Garber Judy E, Rana Huma Q, Bychkovsky Brittany L
出版信息
Oncotarget. 2024 Jul 10;15:459-460. doi: 10.18632/oncotarget.28604.
Abstract
摘要
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J Natl Compr Canc Netw. 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051.
2
Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.超过 6000 名 CHEK2 致病性变异携带者的乳腺癌和结直肠癌风险：错义变异与截断变异的比较。
Cancer Genet. 2023 Nov;278-279:84-90. doi: 10.1016/j.cancergen.2023.10.002. Epub 2023 Oct 11.
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Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).携带 CHEK2 种系致病性/可能致病性变异个体的管理：美国医学遗传学与基因组学学院（ACMG）的临床实践资源。
Genet Med. 2023 Oct;25(10):100870. doi: 10.1016/j.gim.2023.100870. Epub 2023 Jul 25.
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Comprehensive Breast Cancer Risk Assessment for and Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.纳入多基因风险评分和 Tyrer-Cuzick 模型的 和 致病性变异携带者的综合乳腺癌风险评估。
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