0000000000010519
AUTHOR
Gemma Llort
Hormonal and lifestyle factors as modifiers of risk of breast cancer (BC) in BRCA1 and BRCA2 carriers (C).
1560 Background: Mutations in the BRCA1/2 genes confer a high lifetime risk of BC. Penetrance varies among populations and individuals suggesting that non-genetic factors may modify the inherited r...
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization
Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…
Familial breast cancer in Spain: A retrospective study of family history and clinical/pathologic characteristics from the GEICAM “El Álamo III” project.
e12513 Background: Family history (FH) of breast cancer (BC), ovarian cancer (OC), and individual features (IF), like early age of onset, bilateral BC, coexistence of BC and OC, and triple negative BC (TNBC) younger than 50 years, are suspicion criteria of hereditary BC. Although it is assumed in the literature that 15-30% of BC cases can be familial BC (FBC), only 5-10% of BC are hereditary, explained by a germline mutation in BRCA1 or 2. Moreover, there is no international consensus to define FBC (e.g. number of relatives affected, age of onset), in contrast with, e.g. Lynch syndrome and Amsterdam/Bethesda criteria, in order to offer genetic counseling. In Spain, there are not population…
Effects of lifestyle and diet as modifiers of risk of breast cancer (BC) in BRCA1 and BRCA2 carriers.
1505 Background: Mutations in the BRCA1/2 genes confer a high lifetime risk of BC. Penetrance varies among populations and individuals suggesting that non-genetic factors may modify the inherited risk. Knowledge of modifiable factors will help to develop preventive strategies. Methods: Information on physical activity (PA) (current PA and in the adolescence) and smoking was collected in 892 women (W) with a BRCA1/BRCA2 germ-line mutation (582 with BC, 45,62% BRCA2) from 279 families, followed at three Spanish Genetic Counseling Units, 481of these W also answered a food frequency questionnaire. Participants gave their consent and the study was approved by the ethics committee. The associati…