It is estimated that about 5–10% of breast cancer cases may be due to inherited predisposition. Until now, two main susceptibility genes have been identified: BRCA1 and BRCA2. The first linkage and mutational studies suggested that mutations in these two genes would account for the majority of high-risk breast cancer families, but recent studies show how the proportion of families due to BRCA1 or BRCA2 mutations strongly depends on the population and the types of family analyzed. It is now clear that, in the context of families with a modest cancer profile, which are the most commonly found in the clinical practice, the percentage of mutations found is much lower than that suggested by the first studies. In the present study, we analyze a group of 32 Spanish families, which contatined at least three cases of female breast cancer (at least one of them diagnosed before the age of 50 years), for the presence of mutations in the BRCA genes. The total proportion of mutations was low (25%), although the percentage of mutations in the BRCA1 and BRCA2 genes was higher, considering the breast and ovarian cancer families and the male breast cancer families respectively. Our results are in agreement with the idea that a great proportion of moderate-risk cancer families could be due to low penetrance susceptibility genes distinct from BRCA1 or BRCA2. © 2000 Cancer Research Campaign

Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes for a product of 610 amino acid named menin whose function is unknown. We have studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the entire gene; mutations were identified in nine of them: five deletions, one insertion, two nonsense mutation and a complex alteration consisting of a deletion and an insertion that can be explained by a hairpin loop model. Two of the mutations have been previously described; the other seven were novel, and they were scattered throughout the coding sequence of the gene. As in previous series, no correlation was found between phenotype and genotype.

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Objective To evaluate the benefit in terms of self-esteem, quality of life (QoL) and health perception, in a physical activity (FA) prescription intervention from Primary Care, after three months. Methods Quasi-experimental study before (T0) -after (T1) without a control group, for the evaluation of the pilot phase of the CAS program, implemented (December 2017-May 2018) in 5 primary health centers in Valencia. The questionnaire (T0) was completed with social information, self-esteem (Rosemberg), and QoL (Euroqol-5D, including health perception (HP)). The FA was prescribed with specific hours and days and the participation was monitorized. Three months after starting the FA, the participants completed the same cuestionaire (T1). An descriptive analysis was made, by intention to treat, T0 n = 82 and T1 n = 78, and the scales were compared before and after, using the Wilcoxon Test for related samples. Results The FA prescription was offered to 185 people, acceptance n = 82 (44.3%) and there were 14 dropouts, adherence (83%). The sample at T0 n = 82, people who completed the 3 months, n = 68, and n = 10 people who droppout but answered the questionnaire, (4 not be located them), total analysis T1 n = 78. There were a significant improvement in the QoL (26,5% p ≤ 0.002), the HP (16% p ≤ 0.000) and self-esteem (4,7%p ≤ 0.000) in women when comparing the median of the referred score before and after the intervention. Qol improved more in the low educational level (26.55% p < 0.001), while the perception of health (16% p < 0.000), and self-esteem (9.3% p < 0.038) improved more in the high educational level. Discussion The prescription of FA has an important benefit in improving health with only 3 months of prescription. It also has a greater positive benefit in women and in the population of low educational level, who are those who perform less FA. This study helps build evidence of the positive impact on the health of the social prescription from primary care. Key messages After 3 months of the physical activity prescription the QoL and self-steem improved mainly in women and low educated people. The acceptance to participate was 50% but the adherence was more than 80%.