Risk of hereditary breast cancer and the considering of susceptibility for genetic testing in Mendoza, Argentina. Initial experience.

VARGAS ROIG L.M.; NADIN S.B.; CIOCCA D.R.

ONCOLOGÍA CLÍNICA

Alfa Beta

Lugar: Argentina; Año: 2006 p. 1367 - 1369

1669-6336

Objectives: The study of the risk of hereditary breast cancer and the consideration of susceptibility BRCA1/2 for genetic testing in women from Mendoza, Argentina, with a strong family history of breast cancer. Patients, methods and results: eight breast cancer patients and 10 unaffected women were recruited into the study sent by their gynecologists. After the family history was completed, the proband was assessed to see if she had enough criteria for genetic testing, the woman was told whether she was or not a candidate to this study and she was informed of all the implications of undergoing or not undergoing the study. From the 18 studied families (including probands and first and second degree relatives) 45 women had breast cancer, 3 women had ovary cancer and only 1 man had breast cancer. The breast cancer was bilateral in 7 cases (15.5 %), the onset was early < 40 years in 7 women (15.5 %) and early < 50 years in 15 women (33 %). Eight percent (n = 31/387) of first and second relative family members of the 18 probands presented tumors. Eighty-nine percent of the probands (n=16) had enough criteria to undergo a genetic testing according to Myriad, while only 44% of them (n=8) had criteria according to kConFaB. Conclusions: 1) to produce a Familial Breast Cancer Register in Mendoza, Argentina and study BRCA1/2 genes in high risk women to discover their implications in our population 2) to explain to the probands their risk of having or developing hereditary breast cancer and what are the surveillance options of the disease, are considered important.