Inherited genetic variants play crucial role in cancer development and behavior

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

Biallelic PMS2 mutations are responsible for more than half of all cases of constitutional mismatch repair deficiency (CMMRD), a recessively inherited childhood cancer predisposition syndrome. The mismatch repair gene PMS2 is partly embedded within one copy of an inverted 100-kb low-copy repeat (LCR) on 7p22.1. In an individual with CMMRD syndrome, PMS2 was found to be homozygously inactivated by a complex chromosomal rearrangement, which separa…

Today, thanks to the use of “next generation sequencing”, rapid and precise diagnoses are possible, and therefore innovative treatments suitable for each patient. But the many genetic data must be interpreted with caution and precision. Sigu: “Valuing the role of the medical geneticist in the National Health Service”

Inherited genetic variants play crucial role in cancer development and behavior

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) and colleagues around the world, has discovered that the genes we are born with-known as germline genetic variants-play a powerful, underappreciated role in how cancer develops and behaves.

Born With It: How Your DNA Shapes Cancer Before It Even Starts

A major new study has revealed that the genes we inherit at birth play a much larger role in cancer than previously thought—impacting not only how tumors form and evolve, but also how they respond to treatment. Unlike most cancer research that focuses on mutations acquired during life, this study explored millions of inherited variants [...]

How inherited genes help shape the course of cancer

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the Clinical Proteomic Tumor Analysis Consortium (CPTAC) and colleagues around the world, has discovered that the genes we are born with—known as germline genetic variants—play a powerful, underappreciated role in how cancer develops and behaves.

By: Dr. Eugenio Deister/El Democrática There are two theories today in open dispute. The 1st and prevalent one adopted by oncological medicine worldwide for 124 years, STM, the theory of somatic mutation, points out that cancer is a genetic disease proposed by Thoedore Boveri and Walter Sutton in 1901. The 2nd theory, proposed... Read more →