DXA is an alternative method to measure volumetric BD; thus, it could be used to continuously monitor BD in adult women in follow-up studies or to assess BD in young women.
PURPOSE Little is known about the genetic predisposition to breast and ovarian cancer among the Chilean population, in particular genetic predisposition beyond BRCA1 and BRCA2 mutations. In the current study, we aim to describe the germline variants detected in individuals who were referred to a hereditary cancer program in Santiago, Chile. METHODS Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non- BRCA1/2 genes. CONCLUSION Testing for non- BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.
The indications of breast MRI are now clearly established and internationally accepted. They are also applied in Chile as was agreed in the last the National Consensus on the management of breast cancer. In our study the indications not mentioned in the consensus were classified as infrequent. We determined that a 9.2% of breast MRI performed in our study centers were due to infrequent indications, leading to a change in medical management in 71,4% of these patients, although this change sometimes had no scientific evidence availing it. These results suggest that MRI could be useful in specific situation and reveal a need for multicentric high quality studies in order to gather enough evidence to justify its use in indications other than the ones already established. In other situations MRI would not be recommended. In exceptional cases, where it seems useful to perform this type of exam it is suggested to make the advisable to make the decision after discussion in a interdisciplinary committee.
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