Article

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

2021-09-15

Abstract excerpt

<h4>BACKGROUND</h4> Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2 and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. <h4>METHODS</h4> Combining 59,639 breast cancer cases and 53,165 controls, we sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1,146 training variants), BRCA1 (644),...

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Literature Corpus work: 7533ac35-bbb4-5faf-a3d0-956a0019aa3b
DOI: 10.1101/2021.09.02.21262369

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