基因型很重要：针对种系变异的个性化筛查建议 - Suppr | 超能文献

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CHEK2-related breast cancer: real-world challenges.与CHEK2相关的乳腺癌：现实世界中的挑战。

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Double CHEK2 Pathogenic and Low-Risk Variants and Associated Cancer Phenotypes.双重CHEK2致病和低风险变异及相关癌症表型

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NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.美国国立综合癌症网络（NCCN）指南见解：遗传/家族性高风险评估：乳腺癌、卵巢癌和胰腺癌，2024年第2版

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.

3

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).

JAMA Netw Open. 2025 Jan 2;8(1):e2451361. doi: 10.1001/jamanetworkopen.2024.51361.

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.

4

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.常见 CHEK2 变异体的癌症表型差异及其对临床护理的影响——CHEK2 检测。

JAMA Oncol. 2022 Nov 1;8(11):1598-1606. doi: 10.1001/jamaoncol.2022.4071.

5

Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.携带 ATM、CHEK2 和 PALB2 种致病性变异的女性乳腺癌筛查策略：比较建模分析。

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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。

JCO Precis Oncol. 2021 Jun 24;5. doi: 10.1200/PO.20.00484. eCollection 2021 Jun.

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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.760 名 CHEK2 种系突变女性携带者的乳腺癌多基因风险评分表现。

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基因型很重要：针对种系变异的个性化筛查建议 - Suppr | 超能文献

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.

DOI:10.18632/oncotarget.28604

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11235130/

Abstract

摘要