title: Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
abstract: OBJECTIVE
  Epithelial ovarian cancer in women 40 years or younger is rare; diagnosis at this age justifies referral for genetic testing. We evaluated clinical data, family history, and risk of identifying BRCA1/2 mutations in women with early-onset epithelial ovarian cancer.
  
  
  METHODS
  Women 40 years or younger with epithelial ovarian cancer tested for BRCA1/2 mutation at our department of human genetics between 1996 and 2012 were included. The rate of BRCA1/2 mutation was obtained; carriers were compared to noncarriers regarding clinical data.
  
  
  RESULTS
  Ten (19%) of 52 women had a BRCA1/2 mutation. This mutation was detected in 67% of women with and in 9% of the women without first-degree relatives with breast and/or ovarian cancer (P < 0.001; Fisher exact test). The median age at diagnosis was lower in the noncarriers compared to the carriers (30 vs 38 years; P = 0.014). Among the BRCA1/2 mutation carriers, 60% had serous tumors, 80% had moderately to poorly differentiated tumors, and 70% had International Federation of Gynecology and Obstetrics stage III/IV compared to 55%, 43%, and 45%, respectively, in the noncarriers.
  
  
  CONCLUSIONS
  The risk of finding a BRCA1/2 mutation in women 40 years or younger is comparable to women of all ages with epithelial ovarian cancer. Prior probability of finding a BRCA1/2 mutation in these young women is largely determined by their family history, which can help caregivers in informing ahead of genetic counseling and testing.
authors: Departments of *Obstetrics and Gynaecology, †Internal Medicine, ‡Human Genetics, and §Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors: Marieke
authors: M
authors: Arts-de Jong
authors: Catharina M
authors: CM
authors: Manders
authors: Nicoline
authors: N
authors: Hoogerbrugge
authors: Marjolijn J L
authors: MJ
authors: Ligtenberg
authors: Leon F
authors: LF
authors: Massuger
authors: Joanne A
authors: JA
authors: de Hullu
authors: Liesbeth
authors: L
authors: Spruijt
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D006801:Humans; D009426:Netherlands / Q000453:epidemiology; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult