The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?

Autor: Klaartje van Engelen, Rob B. van der Luijt, Janet R. Vos, Peter Devilee, Hanne Meijers-Heijboer, Arjen R. Mensenkamp, Mieke Kriege, Jan C. Oosterwijk, Marian J.E. Mourits, Geertruida H. de Bock, Natalia Teixeira, Kees E. P. van Roozendaal, Matti A. Rookus, Annemieke H. van der Hout
Přispěvatelé: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Medical Oncology, Epidemiology and Data Science, CCA - Cancer biology and immunology, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Life Course Epidemiology (LCE), ​Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Other departments, Human Genetics
Rok vydání: 2018
Předmět:
0301 basic medicine
Adult
medicine.medical_specialty
GENES
RELATIVES
Breast Neoplasms
SUSCEPTIBILITY
Gastroenterology
Article
Cohort Studies
Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14]
03 medical and health sciences
All institutes and research themes of the Radboud University Medical Center
0302 clinical medicine
Germline mutation
Breast cancer
SDG 3 - Good Health and Well-being
Risk Factors
Internal medicine
Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
Genetics
medicine
Cancer Family
Humans
BREAST-CANCER
Genetic Predisposition to Disease
Family history
Prospective cohort study
Medical History Taking
Genetics (clinical)
METAANALYSIS
Aged
Netherlands
BRCA2 Protein
Ovarian Neoplasms
business.industry
BRCA1 Protein
Cancer
WOMEN
GERMLINE MUTATIONS
Middle Aged
medicine.disease
030104 developmental biology
030220 oncology & carcinogenesis
Mutation
Female
Ovarian cancer
business
Cohort study
Zdroj: European Journal of Human Genetics, 26, 848-857
European Journal of Human Genetics, 26(6), 848-857. Nature Publishing Group
HEBON 2018, ' The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers : can it be explained by the mutation position? ', European Journal of Human Genetics, vol. 26, no. 6, pp. 848-857 . https://doi.org/10.1038/s41431-018-0111-9
European Journal of Human Genetics, 26(6), 848-857
European Journal of Human Genetics, 26, 6, pp. 848-857
European journal of human genetics, 26, 848-857. Nature Publishing Group
ISSN: 1018-4813
DOI: 10.1038/s41431-018-0111-9
Popis: This observational study aimed to investigate whether the reported association between family history (FH) of breast cancer (BC) or ovarian cancer (OC) and OC risks in BRCA1/2 mutation carriers can be explained by mutation position on the gene. In total, 3310 female BRCA1/2 mutation carriers participating in a nationwide prospective cohort (Hereditary Breast and Ovarian Cancer in the Netherlands) were included. FH was classified according to cancer occurrence in first-degree relatives (BC only, OC only, both, neither) and mutations were classified according to their position on the gene (OC cluster region (OCCR), BC cluster region, neither). The main outcome was OC occurrence. Cox proportional-hazard models were applied to investigate the association between FH and OC risks before and after adjusting for mutation position. Of all women included, 202 were diagnosed with OC. A BC-only FH tended to be associated with lower OC risks when compared with a FH without BC/OC (HR: 0.79, 95% CI: 0.52-1.17; HR: 0.59, 95% CI: 0.33-1.07 for BRCA1 and BRCA2, respectively) while an OC-only FH tended to be associated with higher risks (HR: 1.58, 95% CI: 0.90-2.77; HR: 1.75, 95% CI: 0.70-4.37 for BRCA1 and BRCA2, respectively). After adjusting for mutation position, association between FH and OC risks was slightly smaller in magnitude (HR: 0.85, 95% CI: 0.55-1.30; HR: 0.64, 95% CI: 0.34-1.21 for BC-only FH in BRCA1 and BRCA2, respectively; HR: 1.46, 95% CI: 0.80-2.68; HR: 1.49, 95% CI: 0.44-4.02 for OC-only FH in BRCA1 and BRCA2, respectively), indicating that mutation position explains only part of the association. Considering the magnitude of the observed trend, we do not believe FH should be used to change counseling regarding OC prevention.
Databáze: OpenAIRE
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