Researchers identify PPP2R1A gene mutations as a new marker linked to better immunotherapy response and survival in ovarian ...

The genetic mutation a person inherits directly influences the severity of cystic fibrosis. While five types of mutations exist, there are thousands of individual mutations, each with its own ...

Using a computational algorithm, researchers at Children's Hospital of Philadelphia analyzed noncoding genetic mutations to discover how they factor into 5 pediatric cancers.

A woman had cancer 5 times before she turned 36, the first time when she was two. A study found she has never-before-seen mutations that were thought to be impossible to survive.

Types of Gene Mutations and Cancer. There are two primary types of genes involved in cancer development: Oncogenes: Protooncogenes are genes that are normally present in the body that code for the ...

New research finds a host of genetic mutations that are common among 12 different types of cancer, suggesting tumors can be defined by their biology rather than their location in the body. Ron ...

MTHFR gene mutation affects folate metabolism, linked to higher risk of cardiovascular issues, blood clots, and certain birth defects. It influences methylation and homocysteine levels.

European Journal of Human Genetics - Characterisation of Five Missense Mutations in the Cystathionine Beta-Synthase Gene from Three Patients with B6-Nonresponsive Homocystinuria Skip to main ...

If you have breast cancer, chances are it’s not caused by a faulty gene you were born with. Most of the time, genes that lead to the disease mutate sometime during your life and aren’t an ...