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@ARTICLE{Dicks:298904,
      author       = {E. M. Dicks and J. P. Tyrer and S. Ezquina and M. Jones and
                      J. Baierl and P.-C. Peng and M. Diaz and E. Goode and S. J.
                      Winham and T. Dörk and T. V. Gorp and A. D. Fazio and D. D.
                      L. Bowtell and D. W. Garsed and K. Odunsi and K. Moysich and
                      M. Pavanello and F. Fostira and P. M. Webb and J. Soukupová
                      and P. A. Cohen and W. Sieh and R. T. Fortner$^*$ and C.
                      Ricker and B. Karlan and I. Campbell and J. D. Brenton and
                      S. J. Ramus and S. A. Gayther and P. D. P. Pharoah},
      title        = {{E}xome sequencing identifies {HELB} as a novel
                      susceptibility gene for non-mucinous, non-high-grade-serous
                      epithelial ovarian cancer.},
      journal      = {European journal of human genetics},
      volume       = {33},
      issn         = {1018-4813},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DKFZ-2025-00343},
      pages        = {297–303},
      year         = {2025},
      note         = {33, pages 297–303 (2025)},
      abstract     = {Rare, 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.},
      cin          = {C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39939714},
      doi          = {10.1038/s41431-025-01786-0},
      url          = {https://inrepo02.dkfz.de/record/298904},
}