Breast cancer (BC), a heterogeneous, aggressive illness with high mortality, is essentially a genomic disease. While the high-penetrance genes BRCA1 and BRCA2 play important roles in tumorigenesis, moderate- and low-penetrance genes are also involved. Single-nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes have recently been identified as BC risk factors. miRNA genes are currently classified as low-penetrance. SNPs are the most common variations in the human genome. While the role of miRNA SNPs in BC susceptibility has been studied extensively, results have been inconsistent. This review analyzes the results of association studies between miRNA SNPs and BC risk from countries around the world. We conclude that: (a) By continent, the largest proportion of studies to date were conducted in Asia (65.0 %) and the smallest proportion in Africa (1.8 %); (b) Association studies have been completed for 67 different SNPs; (c) 146a, 196a2, 499, 27a, and 423 are the most-studied miRNAs; (d) The SNPs rs2910164 (miRNA-146a), rs11614913 (miRNA-196a2), rs3746444 (miRNA-499) and rs6505162 (miRNA-423) were the most widely associated with increased BC risk; (e) The majority of studies had small samples, which may affect the precision and power of the results; and (f) The effect of an SNP on BC risk depends on the ethnicity of the population. This review also discusses potential explanations for controversial findings.
The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence BC risk. The present study evaluates the association between SNPs and SNP-SNP interaction in driver genes TTN (rs10497520), TBX3 (rs2242442), KMT2D (rs11168827), and MAP3K1 (rs702688 and rs702689) with BC risk in BRCA1/2-negative Chilean families. The SNPs were genotyped in 489 BC cases and 1078 controls by TaqMan Assay. Our data do not support an association between rs702688: A>G or rs702689: G>A and BC risk. The rs10497520-T allele was associated with a decreased risk in patients with family history of BC or early-onset BC (OR = 0.6, p < 0.0001 and OR = 0.7, p = 0.05, respectively). rs2242442-G was associated with a protective effect and rs11168827-C was associated with increased BC risk in families with a strong history of BC (OR = 0.6, p = 0.02 and OR = 1.4, p = 0.05, respectively). As rs10497520-T and rs2242442-G seemed to protect against BC risk, we then evaluated their combined effect. Familial BC risk decreased in a dose-dependent manner with the protective allele count, reflecting an additive effect (p-trend < 10−4). To our knowledge, this is the first association study of BC driver gene germline variations in a Chilean population.
Recurrence of goodpasture syndrome with negative antiglomerular basement antibodies. Report of one case Goodpasture Syndrome is described as a single episode disease entity. It is diagnosed with the demonstration of antiglomerular basement (anti-GBM) antibodies in plasma or renal tissue. Although the recurrence of anti-GBM disease is rare, it has been reported in up to 3% of cases. Recurrence with negative anti-GBM antibodies in plasma is even less frequent We report a 63 years old male in whom anti-GBM disease recurred without detectable anti-GBM antibodies in plasma, despite having positive antibodies at the onset.
El síndrome de Rett (SR) es un trastorno del neurodesarrollo poco frecuente descrito en 1966. Se caracteriza por un estancamiento y posterior regresión del desarrollo psicomotor, asociado a la aparición de movimientos estereotipados de manos, después de un período de desarrollo aparentemente normal. Se han identificado variantes patogénicas del gen MECP2 en la mayoría de los casos. Esta revisión narrativa se enfoca en analizar información actualizada respecto al SR, tanto en sus aspectos médicos como sociales de forma global, con un énfasis en la situación chilena. Se procedió a una búsqueda de información actualizada en SR en múltiples bases de datos, seleccionando 68 artículos publicados entre 1995 y 2022, 56 sobre aspectos médicos, 11 sobre aspectos sociales y 1 en ambos. Adicionalmente, se incluyó información de páginas gubernamentales en los aspectos sociales. Dentro de los aspectos médicos se abordan clínica, diagnóstico y clasificación, genética, fisiopatología y manejo. Respecto a lo social, se enfoca en el estrés psicoemocional que puede causar en la familia en base a estudios internacionales y por último, en las distintas herramientas con las que cuentan las pacientes chilenas. El SR es una patología compleja que afecta múltiples sistemas, requiriendo un manejo multidisciplinario y teniendo un importante impacto psicológico y socioeconómico en la familia. En Chile, las leyes 20.422 y 21.292, el Servicio Nacional de Discapacidad y la creación de la fundación “Caminamos por Ellas y Ellos” son avances positivos en el apoyo a estas pacientes y sus familias.
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