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000298904 1001_ $$00000-0002-0617-0401$$aDicks, Ed M$$b0
000298904 245__ $$aExome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.
000298904 260__ $$aBasingstoke$$bStockton Press$$c2025
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000298904 500__ $$a33, pages 297–303 (2025)
000298904 520__ $$aRare, germline loss-of-function variants in a handful of DNA repair genes are associated with epithelial ovarian cancer. The aim of this study was to evaluate the role of rare, coding, loss-of-function variants across the genome in epithelial ovarian cancer. We carried out a gene-by-gene burden test with various histotypes using data from 2573 non-mucinous cases and 13,923 controls. Twelve genes were associated at a False Discovery Rate of less than 0.1 of which seven were the known ovarian cancer susceptibility genes BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH6 and PALB2. The other five genes were OR2T35, HELB, MYO1A and GABRP which were associated with non-high-grade serous ovarian cancer and MIGA1 which was associated with high-grade serous ovarian cancer. Further support for the association of HELB association comes from the observation that loss-of-function variants in HELB are associated with age at natural menopause and Mendelian randomisation analysis shows an association between genetically predicted age at natural menopause and endometrioid ovarian cancer, but not high-grade serous ovarian cancer.
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000298904 7001_ $$00000-0003-3724-4757$$aTyrer, Jonthan P$$b1
000298904 7001_ $$aEzquina, Suzana$$b2
000298904 7001_ $$aJones, Michelle$$b3
000298904 7001_ $$aBaierl, John$$b4
000298904 7001_ $$aPeng, Pei-Chen$$b5
000298904 7001_ $$aDiaz, Michael$$b6
000298904 7001_ $$aGoode, Ellen$$b7
000298904 7001_ $$aWinham, Stacey J$$b8
000298904 7001_ $$aDörk, Thilo$$b9
000298904 7001_ $$aGorp, Toon Van$$b10
000298904 7001_ $$aFazio, Anna De$$b11
000298904 7001_ $$aBowtell, David D L$$b12
000298904 7001_ $$aGarsed, Dale W$$b13
000298904 7001_ $$aOdunsi, Kunle$$b14
000298904 7001_ $$aMoysich, Kirsten$$b15
000298904 7001_ $$aPavanello, Marina$$b16
000298904 7001_ $$aFostira, Florentia$$b17
000298904 7001_ $$aWebb, Penelope M$$b18
000298904 7001_ $$aSoukupová, Jana$$b19
000298904 7001_ $$aCohen, Paul A$$b20
000298904 7001_ $$aSieh, Weiva$$b21
000298904 7001_ $$0P:(DE-He78)74a6af8347ec5cbd4b77e562e10ca1f2$$aFortner, Renée Turzanski$$b22$$udkfz
000298904 7001_ $$aRicker, Charite$$b23
000298904 7001_ $$aKarlan, Beth$$b24
000298904 7001_ $$aCampbell, Ian$$b25
000298904 7001_ $$aBrenton, James D$$b26
000298904 7001_ $$aRamus, Susan J$$b27
000298904 7001_ $$aGayther, Simon A$$b28
000298904 7001_ $$00000-0001-8494-732X$$aPharoah, Paul D P$$b29
000298904 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-025-01786-0$$p297–303$$tEuropean journal of human genetics$$v33$$x1018-4813$$y2025
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