A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
Tekijät: 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
Kustantaja: Henry Stewart Publications
Julkaisuvuosi: 2023
Lehti: Human Genomics
Tietokannassa oleva lehden nimi: HUMAN GENOMICS
Artikkelin numero: 88
Vuosikerta: 17
Numero: 1
ISSN: 1473-9542
eISSN: 1479-7364
DOI: https://doi.org/10.1186/s40246-023-00538-9
Julkaisun avoimuus kirjaamishetkellä: Avoimesti saatavilla
Julkaisukanavan avoimuus : Kokonaan avoin julkaisukanava
Verkko-osoite: https://doi.org/10.1186/s40246-023-00538-9
Rinnakkaistallenteen osoite: 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.
Ladattava julkaisu This is an electronic reprint of the original article. |  |
