The role of polygenic risk and susceptibility genes in breast cancer over the course of life View Full Text


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Article Info

DATE

2020-12-14

AUTHORS

Nina Mars, Elisabeth Widén, Sini Kerminen, Tuomo Meretoja, Matti Pirinen, Pietro della Briotta Parolo, Priit Palta, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly, Samuli Ripatti

ABSTRACT

Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen study with 8401 breast cancer cases, the PRS modifies the breast cancer risk of two high-impact frameshift risk variants. Similarly, we show that after the breast cancer diagnosis, individuals with elevated PRS have an elevated risk of developing contralateral breast cancer, and that the PRS can considerably improve risk assessment among their female first-degree relatives. In more detail, women with the c.1592delT variant in PALB2 (242-fold enrichment in Finland, 336 carriers) and an average PRS (10–90th percentile) have a lifetime risk of breast cancer at 55% (95% CI 49–61%), which increases to 84% (71–97%) with a high PRS ( > 90th percentile), and decreases to 49% (30–68%) with a low PRS ( < 10th percentile). Similarly, for c.1100delC in CHEK2 (3.7–fold enrichment; 1648 carriers), the respective lifetime risks are 29% (27–32%), 59% (52–66%), and 9% (5–14%). The PRS also refines the risk assessment of women with first-degree relatives diagnosed with breast cancer, particularly among women with positive family history of early-onset breast cancer. Here we demonstrate the opportunities for a comprehensive way of assessing genetic risk in the general population, in breast cancer patients, and in unaffected family members. More... »

PAGES

6383

References to SciGraph publications

  • 2017-10-23. Association analysis identifies 65 new breast cancer risk loci in NATURE
  • 1998-06. A Simplified Method of Calculating an Overall Goodness-of-Fit Test for the Cox Proportional Hazards Model in LIFETIME DATA ANALYSIS
  • 2016-10-06. Genetic modifiers of CHEK2*1100delC-associated breast cancer risk in GENETICS IN MEDICINE
  • 2020-05-27. The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2019-01-15. BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors in GENETICS IN MEDICINE
  • 2019-04-16. Polygenic prediction via Bayesian regression and continuous shrinkage priors in NATURE COMMUNICATIONS
  • 2018-08-13. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations in NATURE GENETICS
  • 2016-10-03. Reference-based phasing using the Haplotype Reference Consortium panel in NATURE GENETICS
  • 2020-04-07. Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers in NATURE MEDICINE
  • 2019-03-29. Clinical use of current polygenic risk scores may exacerbate health disparities in NATURE GENETICS
  • 2002-01-25. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes in BRITISH JOURNAL OF CANCER
  • 2016-06-14. Counselling framework for moderate-penetrance cancer-susceptibility mutations in NATURE REVIEWS CLINICAL ONCOLOGY
  • 2020-08-20. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions in NATURE COMMUNICATIONS
  • 2006-09-25. The CHEK2 gene and inherited breast cancer susceptibility in ONCOGENE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-020-19966-5

    DOI

    http://dx.doi.org/10.1038/s41467-020-19966-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1133486238

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/33318493


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