To identify BRCA1 germ-line mutations in the breast and breast-ovarian cancer families in the Stockholm region, a total of 127 families were screened.
DNA from 174 patients from these families were studied using various mutation screening techniques, followed by direct DNA sequencing.
Mutations were identified in 7 of 20 families with breast and ovarian cancer and in one family with ovarian cancer only, whereas only 1 family of 106 with breast cancer showed a mutation.
Thus, germ-line mutations in BRCAI were found in one-third of the families with both breast and ovarian cancer, but in only 1% of the breast cancer families.
The low frequency of germ-line mutations in the site-specific breast cancer families means that other genes are likely to segregate in these families.
Mots-clés Pascal : Gène suppresseur tumeur, Mutation, Criblage, Tumeur maligne, Ovaire, Glande mammaire, Homme, DNA, Test activité, Séquence nucléotide, Suède, Europe, Epidémiologie, Lignée germinale, Appareil génital femelle pathologie, Ovaire pathologie, Glande mammaire pathologie, Génétique, Gène BRCA1
Mots-clés Pascal anglais : Tumor suppressor gene, Mutation, Screening, Malignant tumor, Ovary, Mammary gland, Human, DNA, Screening test, Nucleotide sequence, Sweden, Europe, Epidemiology, Germ line, Female genital diseases, Ovarian diseases, Mammary gland diseases, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0365942
Code Inist : 002B20E02. Création : 12/09/1997.