No abstract

Genetic analysis identifies the HMMR gene as a modifier of the breast cancer risk associated with BRCA1 gene mutation, while cell biological analysis of the protein product suggests a function in regulating development of the mammary gland.

No abstract

Informed probands are key actors for disclosing genetic information to their relatives when a mutation has been identified in the family. The objectives were to study women's attitudes towards the family disclosure of positive breast cancer genetic testing results and to determine the predictive factors of the diffusion patterns observed. A national multi-center cross-sectional survey was carried out at five French cancer genetic clinics during a 1-year period. Self-administered questionnaires were completed after the consultation by 84.5% (398/471) of women attending breast cancer genetic clinics for the first time. Among the 383 respondents who had at least one living first-degree relative to inform, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them. The sibship would be the most frequently informed blood relatives, sisters in 86.9% and brothers in 79% compared with mother in 71.4%, children in 70.4%, and father in 64.9%. Women of the family would be more frequently informed than men (P < 0.05). After multivariate adjustment, age, the fact to be affected by cancer, the number of daughters, and the emotional disturbance due to cancer in a close relationship were the main determinants (P < 0.05) of the diffusion patterns observed. The first step of the relatives' attendance to genetic counseling and the proband's willingness to disclose breast cancer genetic tests results was high in this study and was clearly dependent on the women's personal and emotional characteristics.

Material and methods POPULATION SAMPLEThe six participating regional cancer centres were selected with a view to giving a representative picture of the French population as a whole (south: Marseille, Toulouse; north: Lille; west: Nantes; centre: Paris/St Cloud, Clermont-Ferrand) and covered a total population of more than 4 million inhabitants. The main criterion used for inclusion in the study was the presence of breast cancer running in the family, either in the patient or in at least one first degree relative when she was not affected herself. All the healthy cases included had at least one first degree relative with breast cancer. All the affected ones had a first degree relative with cancer and when the consultand herself was not affected she had at least one first degree relative who was. The consultands were female adult cancer patients and healthy patients who were asked to participate when attending the cancer genetic clinics for the first time between January 1994 and January 1995. CONSULTANDS' QUESTIONNAIRESThe consultands were mailed a standardised questionnaire (with a stamped envelope) during the week after the consultation. If no answer was received within two weeks of the first letter, a reminder was sent, followed after a second period of two weeks by a complete package (letter, questionnaire, and stamped envelope). The questions asked about the attitudes towards breast cancer predictive testing are given in the appendix.Both open ended and closed questions were used to enquire about the transmission of information to relatives about the family cancer risk, how this information was received,

No abstract

No abstract

No abstract