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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer


  • Catherine M. Phelan
  • Karoline B. Kuchenbaecker
  • Jonathan P. Tyrer
  • Siddhartha P. Kar
  • Kate Lawrenson
  • Stacey J. Winham
  • Joe Dennis
  • Ailith Pirie
  • Marjorie J. Riggan
  • Ganna Chornokur
  • Madalene A. Earp
  • Paulo C. Lyra
  • Janet M. Lee
  • Simon Coetzee
  • Jonathan Beesley
  • Lesley McGuffog
  • Penny Soucy
  • Ed Dicks
  • Andrew Lee
  • Daniel Barrowdale
  • Julie Lecarpentier
  • Goska Leslie
  • Cora M. Aalfs
  • Katja K.H. Aben
  • Marcia Adams
  • Julian Adlard
  • Irene L. Andrulis
  • Hoda Anton-Culver
  • Natalia Antonenkova
  • Gerasimos Aravantinos
  • Norbert Arnold
  • Banu K. Arun
  • Brita Arver
  • Jacopo Azzollini
  • Judith Balmaña
  • Susana N. Banerjee
  • Laure Barjhoux
  • Rosa B. Barkardottir
  • Yukie Bean
  • Matthias W. Beckmann
  • Alicia Beeghly-Fadiel
  • Javier Benitez
  • Marina Bermisheva
  • Marcus Q. Bernardini
  • Michael J. Birrer
  • Åke Borg
  • Per Broberg
  • Mats Jernetz
  • Päivi Kannisto
  • Håkan Olsson

Summary, in English

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.


  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Medical oncology
  • EpiHealth: Epidemiology for Health

Publishing year







Nature Genetics





Document type

Journal article


Nature Publishing Group


  • Medical Genetics




  • ISSN: 1061-4036