Segregation analysis of epithelial ovarian cancer in Finland.
Epithelial ovarian cancer is known to aggregate in families.
The dominantly inherited ovarian cancer predisposing genes, BRCA1, BRCA2 and genes involved in the hereditary non-polyposis colorectal cancer (HNPCC) syndrome, have recently been identified.
However, in the majority of families with more than one case of ovarian cancer, dominant inheritance cannot be recognized.
We investigated familial clustering of epithelial ovarian cancer in a population-based sample of 663 Finnish ovarian cancer patients.
A segregation analysis with the POINTER software was conducted on the 937 nuclear families from these 663 pedigrees.
The major gene model was favoured, and the sporadic and multifactorial models were strongly rejected.
In the studied population, the best fitting model was a recessive mode of inheritance, and 8% of ovarian cancer patients were estimated to be homozygous for the deleterious genotype.
This evidence for recessively inherited ovarian cancer predisposition should be interpreted cautiously, as the analysis is subject to certain errors, which are discussed in the article.
Results of this analysis, however, strongly emphasize the role of genetic factors in all familial aggregation of epithelial ovarian cancer.
Mots-clés Pascal : Carcinome, Ovaire, Analyse ségrégation, Analyse statistique, Prédisposition, Génétique épidémiologique, Caractère récessif, Héréditaire, Etude familiale, Finlande, Europe, Homme, Tumeur maligne, Appareil génital femelle pathologie, Ovaire pathologie, Maladie héréditaire
Mots-clés Pascal anglais : Carcinoma, Ovary, Segregation analysis, Statistical analysis, Predisposition, Epidemiologic genetics, Recessive character, Hereditary, Family study, Finland, Europe, Human, Malignant tumor, Female genital diseases, Ovarian diseases, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0254751
Code Inist : 002B20C02. Création : 11/09/1998.