Scopul nostru este sprijinirea şi promovarea cercetării ştiinţifice şi facilitarea comunicării între cercetătorii români din întreaga lume.
Autori: Negura, A; Matei, M; Negura, L; Carasevici, E; Uhrhammer, N; Bignon, YJ; Azoicai, D
Editorial: Revista romana de bioetica, 8 (4), p.156-165, 2010.
Hereditary predisposition to breast and ovarian cancer is mainly attributable to tumor
suppressor genes BRCA1 and BRCA2. Together, these two genes account for up to 80% of
cancer cases in hereditary breast and ovarian cancer (HBOC) families. Molecular diagnosis is
nowadays standard practice in western world and allows medical oncogenetic follow-up for
BRCA mutation carriers and for their families. Close surveillance of patients includes early and
more frequent mammography and pelvic examinations for the early detection of ovarian cancer,
while preventive measures are mostly limited to prophylactic surgery, most notably the
annexectomy in post-reproductive women to reduce the risk of both ovarian and breast cancer.
Informing patients about the possibility or necessity of molecular tests, as well as communicating
test results to patients, are medical practices linked to many ethical aspects, including informed
consent and confidentiality. Informing the relatives about cancer predisposition results and
implications belongs to the patient; still, in some cases, the patient refuses to know the result or
to inform other family members. The ethical implications of informing or not the relatives,
especially when they are children or adolescent daughters, are discussed in this article through
four concrete cases. Genetic counseling copes with the complex intra-family communication
dynamics, because the genetic information affects parents, children and sometimes the entire
Cuvinte cheie: Hereditary cancer, molecular test, genetic counseling, responsibility, intra-family communication