Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel. Thus, the aim of this review is to present the current state of knowledge regarding pathogenic BRCA variants and other BC susceptibility genes. We conducted a comprehensive review of 47 studies from 12 countries in Central and South America published between 2002 and 2017 reporting the prevalence and/or spectrum of mutations and pathogenic variants in BRCA1/2 and other BC susceptibility genes. The studies on BRCA1/2 mutations screened a total of 5956 individuals, and studies on susceptibility genes analyzed a combined sample size of 11,578 individuals. To date, a total of 190 different BRCA1/2 pathogenic mutations in Central and South American populations have been reported in the literature. Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.

Tumores odontogénicos en Puebla / Odontogenic tumors in Puebla

Los tumores de origen odontogénico representan un conjunto de entidades patológicas exclusivas de los huesos de la región maxilomandibular. La importancia de su diagnóstico clínico, radiográfico y microscópico radica en las serias implicaciones de su tratamiento y pronóstico. Se presenta un estudio retrospectivo sobre estas entidades a partir del análisis de 2.859 biopsias vistas en la Unidad de Diagnóstico de la ciudad de Puebla, México. En el presente estudio, estas entidades representaron el 0.24 por ciento, siendo el ameloblastoma de tipo quístico la lesión más frecuentemente hallada y representó el 57.1 por ciento de los tumores odontogénicos estudiados. Se discuten los aspectos antomoclínicos, de tratamiento y pronóstico y se hace énfasis en la importancia del diagnóstico preciso para estas lesiones, ya que como se reporta en la literatura, este grupo de entidades tienden a producir una gran destrucción del hueso y presentan complicaciones importantes