BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.
Germline BRCA1/2 testing of breast and ovarian cancer patients is growing rapidly as the result affects both treatment and cancer prevention in patients and relatives. Through the DNA-BONus study we offered BRCA1/2 testing and familial risk assessment to all new patients with breast (N=893) or ovarian (N=122) cancer diagnosed between September 2012 and April 2015, irrespective of family history or age, and without prior face-to-face genetic counselling. BRCA1/2 testing was accepted by 405 (45.4%) and 83 (68.0%) of the patients with breast or ovarian cancer, respectively. A pathogenic BRCA1/2 variant was found in 7 (1.7%) of the breast cancer patients and 19 (22.3%) of the ovarian cancer patients. In retrospect, all BRCA1/2 mutation carriers appeared to fulfill current criteria for BRCA1/2 testing. Hospital Anxiety and Depression Scale (HADS) scores showed that the mean levels of anxiety and depression were comparable to those reported for breast and gynecological cancer patients in general, with a significant drop in anxiety symptoms during a 6-month follow-up period, during which the test result was forwarded to the patients. These results show that BRCA1/2 testing is well accepted in newly diagnosed breast and ovarian cancer patients. Current test criteria based on age and family history are sufficient to identify most BRCA1/2 mutation carriers among breast cancer patients. We recommend germline BRCA1/2 testing in all patients with epithelial ovarian cancer because of the high prevalence of pathogenic BRCA1/2 variants.
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Hildegunn
H
Høberg-Vetti
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.|Department of Clinical Science, University of Bergen, Bergen, Norway.
Cathrine
C
Bjorvatn
Department of Gynecology and Obstetrics, Stavanger University Hospital, Stavanger, Norway.
Bent E
BE
Fiane
Department of Surgery, Haukeland University Hospital, Bergen, Norway.
Turid
T
Aas
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen, Norway.
Kathrine
K
Woie
Department of Surgery, Haugesund Hospital, Haugesund, Norway.
Helge
H
Espelid
Department of Surgery, Førde Central Hospital, Førde, Norway.
Tone
T
Rusken
Department of Clinical Science, University of Bergen, Bergen, Norway.|Department of Oncology, Haukeland University Hospital, Bergen, Norway.
Hans Petter
HP
Eikesdal
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Wenche
W
Listøl
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.
Marianne T
MT
Haavind
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.|Department of Clinical Science, University of Bergen, Bergen, Norway.
Per M
PM
Knappskog
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Bjørn Ivar
BI
Haukanes
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.|Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.|Department of Clinical Science, University of Bergen, Bergen, Norway.
Vidar M
VM
Steen
Western Norway Familial Cancer Center, Haukeland University Hospital, Bergen, Norway.|Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nicoline
N
Hoogerbrugge
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001007:Anxiety / Q000453:epidemiology*; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D015995:Prevalence
D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human