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Background: Germline mutations in the BRCA1 gene have been associated with familial breast/ovarian cancer. Furthermore, women diagnosed of early-onset breast cancer have a higher probability of being carriers of BRCA1 mutations. Our aim was to know prevalence of BRCA1 mutations in women with breast cancer diagnosed before 40 years., Patients and Methods: We analyzed genomic DNA samples of 159 women with early-onset breast cancer. Ten fragments of BRCA1 gene covering the 36% of cases with mutations described in the literature were screened. Analysis involved polymerase chain reaction (PCR), single-strand conformation polymorphisms (SSCP) and direct sequencing., Results: Three germline BRCA1 mutations were identified, one of them not previously described. Two mutations were found in women with familial history of breast cancer. Five additional rare variants and polymorphisms were also detected., Conclusions: The absence of recurrent mutations or mutations detected in other countries, except for the 185delAG mutation, present in Ashkenazim population, shows the influence of ethnic and geographic origin of population studied, and illustrates the difficulties of establishing DNA-based screening tests for hereditary breast cancer.

Background: We studied pS2 protein in breast tumors and its relation with estrogen and progesterone receptors and with anatomopathological characteristics of the tumors., Material and Methods: We measured the pS2 content (by IRMA) and steroid receptors content (by EIA) in 151 breast tumors. Results were compared and correlated with tumoral characteristics., Results: 53% of tumors were pS2+. Among them, 91% were estrogen receptors +.86% of estrogen receptors negative tumors were pS2-. We observed correlation between pS2 and estrogen receptors values (r = 0.56; p < 0.0001) and between pS2 and progesterone receptors values (r = 0.53; p < 0.0001). Distributing the tumors in pS2+ and pS2-, we observed association between pS2+ and estrogen receptors + (chi 2 = 45.6; p < 0.0001) and pS2+ and progesterone receptors + (chi 2 = 43.1; p < 0.0001). However, we found a 18.5% of estrogen receptors + pS2- tumors. We observed a significant difference between GII and GIII tumoral grades (chi 2 = 5.51; p < 0.019), with a majority of pS2+ tumors in GII and pS2- tumors in GIII., Conclusions: The estrogen receptors in estrogen receptors + ps2- tumors may be non functional. The presence of pS2 protein alternative to that of progesterone receptors may indicate a functional heterogeneity of the estrogen receptors system, which is of interest in evaluating prognosis and response to the hormonal therapy.

Background: The aim of this study was to determine whether the induction of progesterone receptors (PR) for estrogen receptors (ER) in variable in breast cancer, whether it differs among pre and post menopausal women and whether the ER/PR quotient may be an index of tumoral biology., Methods: The ER and PR content was determined by enzyme immunoassay in 814 breast tumors and the ER/PR quotient was calculated in the ER+PR+ tumors (n = 395)., Results: ER/PR values < 1 were more frequent in premenopausal women (66%) than in post menopausal women (38%). No influence was observed with regard to age., Conclusions: The highest ER/PR values were found in post menopausal women indicating decreased estrogen receptor transcriptional activity in this subgroup contrary to that found in premenopausal women.