Review
Version 1
Preserved in Portico This version is not peer-reviewed
Genetic Risk Scores and Missing Heritability in Ovarian Cancer
Version 1
: Received: 27 January 2023 / Approved: 28 January 2023 / Online: 28 January 2023 (06:58:55 CET)
A peer-reviewed article of this Preprint also exists.
Fatapour, Y.; Brody, J.P. Genetic Risk Scores and Missing Heritability in Ovarian Cancer. Genes 2023, 14, 762. Fatapour, Y.; Brody, J.P. Genetic Risk Scores and Missing Heritability in Ovarian Cancer. Genes 2023, 14, 762.
Abstract
Ovarian cancers are curable by surgical resection when discovered early enough. Unfortunately, most ovarian cancers are diagnosed in the later stages. One strategy to identify early ovarian tumors is to screen women who have the highest risk scores. This mini review summarizes the accuracy of different methods used to assess the risk of developing ovarian cancer, including family history, BRCA genetic tests, and polygenic risk scores. The accuracy of these is compared to the maximum theoretical accuracy, revealing a substantial gap. We suggest that this gap, or missing heritability, could be caused by epistatic interactions between genes. An alternative approach to computing genetic risk scores, using chromosomal-scale length variation should incorporate epistatic interactions. Future research in this area should focus on this and other alternative methods of characterizing genomes.
Keywords
ovarian cancer; machine learning; germ line; genetic risk scores
Subject
Medicine and Pharmacology, Oncology and Oncogenics
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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