Autori: Negura L, Uhrhammer N, Negura A, Artenie V, Carasevici E, Bignon YJ.

Editorial: Springer, Springer, Familial Cancer, 9(4), p.519-523, 2010.

Rezumat:

Breast cancer is the most common cancer in
women worldwide, including Romania, where its incidence
has increased significantly during the last decade. Ovarian
cancer is the fourth leading cause of mortality by cancer in
women. BRCA1 and BRCA2 are major cancer predisposition
genes, responsible for a large percentage of hereditary
breast and ovarian cancer (HBOC) families. We investigated
17 patients from unrelated HBOC families in northeastern
Romania, screening for mutations in BRCA1 and
BRCA2 by mutation-specific PCR and by dideoxy
sequencing. We identified four BRCA1 and two BRCA2
mutations in the 17 families. The overall mutation frequency
was 41% (7/17; 5 BRCA1 and 2 BRCA2). Two
mutations (BRCA1 c.2241dupC and BRCA2 c.8680C[T)
were novel and not listed in the BIC database. Two
recurrent BRCA1 mutations (c.5266dupC and c.181T[G),
previously described among Ashkenazi Jewish and Eastern
European populations, were also found. Two unclassified
variants (UV) were found, one of which was novel (BRCA2
c.4589A[G). Medical follow-up for mutation carriers was
implemented. Our study is the first molecular investigation
of the role of the BRCA genes in breast and ovarian cancer
in Romania.

Cuvinte cheie: Predispozitie la cancer mamar/ovarian, familii HBOC, gene BRCA, mutatii, variante neclasificate, nord-estul Romaniei // Breast/ovarian cancer predisposition, HBOC families, BRCA genes, mutations, unclassified variants, North-Eastern Romania

URL: http://www.springerlink.com/content/g813724r25377nl4/fulltext.pdf