El cáncer hereditario de mama y ovario tiene una frecuencia en poblaciones estudiadas de aproximadamente 1 en 7,500. Se hereda con carácter autosómico dominante, teniendo una penetrancia del 85%. El concepto de penetrancia se refiere a la proporción con la que se presenta un gen dominante en la familia...
Existe un grupo particular llamado síndromes de susceptibilidad al cáncer. Los cuales generalmente están asociados a tumores cuya frecuencia en la población es baja, habitualmente ocurren en órganos que rara vez desarrollan malignidad y se pueden presentar más de un tipo de cáncer en el mismo paciente.
A recently published study (S. Sakata-2022) made in a japanese population, using a panel of next-generation sequencing (NGS), we examined > 300 adenocarcinomas of the lung, identified in approximately half of the cases, variants constants in the genes EGFR and KRAS, which provides useful information to study and identify variants in these genes in patients with lung adenocarcinomas.
Before deleterious mutations, the cell has an efficient repair system through the pathway Repair by Homologous Recombination (HRR), which allows you to repair mutations of the double-stranded, by activating a complex molecular mechanism that includes a team of genes, within which are found mainly BRCA1/2, ATM, PALB2, and RAD51; however, when there is a mutation in any of the genes of this pathway, is set to a Deficiency in the Homologous Recombination (HRD).
It has been estimated that the DNA suffers more than 10,000 variations on a daily basis as a result of errors in the replication, errors in the repair or absence of the same.
The chronic inflammation caused by bacterial and viral infections is strongly related to the etiology and the development of cancer, not only because of the inflammation caused by the infection, but by the integration of sequences of DNA and RNA in human cells.
The chronic inflammation caused by bacterial and viral infections is strongly related to the etiology and the development of cancer, not only because of the inflammation caused by the infection, but by the integration of sequences of DNA and RNA in human cells.
There are several Polyposis Colorectal Cancer Syndromes, in which familial adenomatous polyposis is the most classic, it is transmitted with an autosomal dominant character.
Have been classified into 2 types syndromes of colorectal cancer, depending on whether they are accompanying or not polyps.
To date, we have been able to identify most of the genes involved in different types of cancer. Thus, in breast cancer have been identified genetic variants in about 30 genes...
