A1 Refereed original research article in a scientific journal
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
Authors: Nousiainen Susanna, Kuismin Outi, Reinikka Siiri, Manninen Roosa, Khamaiseh Sara, Kuivalainen Mari, Terho Anna, Koivurova Sari, Niinimäki Maarit, Salokas Kari, Varjosalo Markku, Ahtikoski Anne, Butzow Ralf, Lindgren Outi, Uimari Outi, Vahteristo Pia
Publisher: Henry Stewart Publications
Publication year: 2023
Journal: Human Genomics
Journal name in source: HUMAN GENOMICS
Article number: 88
Volume: 17
Issue: 1
ISSN: 1473-9542
eISSN: 1479-7364
DOI: https://doi.org/10.1186/s40246-023-00538-9
Publication's open availability at the time of reporting: Open Access
Publication channel's open availability : Open Access publication channel
Web address : https://doi.org/10.1186/s40246-023-00538-9
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/181909301
Endometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery. The etiology of endometriosis remains elusive, though a high level of heritability is well established. Several low-penetrance predisposing loci have been identified, but high-risk susceptibility remains undetermined. Endometriosis is known to increase the risk of epithelial ovarian cancers, especially of endometrioid and clear cell types. Here, we have analyzed a Finnish family where four women have been diagnosed with surgically verified, severely symptomatic endometriosis and two of the patients also with high-grade serous carcinoma.
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