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

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اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Springer Science and Business Media LLC
    • الموضوع:
      2022
    • Collection:
      DataCite Metadata Store (German National Library of Science and Technology)
    • نبذة مختصرة :
      BACKGROUND: 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. METHODS: We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. RESULTS: The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING ...
    • Relation:
      https://dx.doi.org/10.1101/2021.09.02.21262369
    • الرقم المعرف:
      10.17863/cam.85841
    • Rights:
      open.access ; Creative Commons Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/legalcode ; cc-by-4.0 ; http://purl.org/coar/access_right/c_abf2
    • الرقم المعرف:
      edsbas.DE5CFA2