After a breast-cancer diagnosis and a separate scare, my mom tested for the BRCA2 gene mutation. Knowing it could be hereditary, I decided to get tested at 23 to see if I also carried the mutation. My ...

An affordable new BRCA gene test has hit the market, but who should take it? — -- A new genetic testing kit that hits the market today is the most affordable, and arguably one of the simplest, ...

Scientists at the Victor Chang Cardiac Research Institute have developed a world-first individualised risk prediction tool for people suffering from a type of heart arrhythmia that can cause sudden ...

The general population has less than a 20 percent chance of developing breast cancer. However, for a person who tests positive for a gene mutation linked to breast cancer, the risk goes up to 87 ...

A new "proteomic" blood test can accurately screen a newborn's DNA for thousands of rare, inherited diseases by analyzing just a single-milliliter sample, according to a study to be presented Monday.

The Pig-A gene plays a pivotal role in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which tether a multitude of proteins to the cell surface. Mutations in this X‐linked gene result ...

Population-level identification of patients with MMR mutation-positive endometrial cancer is optimized by stepwise testing for tumor MMR IHC loss in patients younger than 60 years, tumor MLH1 ...

Cystic fibrosis is an inherited illness that can be screened for during pregnancy. The test determines whether you have any altered genes that you can pass on to your child. Having the information can ...

The assessment compared tumour testing strategies involving microsatellite instability (MSI) testing, immunohistochemistry (IHC) testing (both with and without further testing to exclude sporadic ...