Rare genes and Rare Variants behind BREAST CANCER 

Rare variants are combined with background genetic risk factors may account for many unexplained cases of familial breast cancer. Therefore getting to know the specific genes which are actually involved could inform one choice of prevention and required treatment strategies, according to the findings presented in a plenary session at the American Society of Human Genetics 2017 annual meeting in Orlando, US researchers focussed their study on patients at high risk of breast cancer, that is those with a personal or family history who were seeking an explanation.

Actually genes do not work on their own but rather as part of ones overall genetic context. The concept of background genetic risk is not new but for many years scientists did not have the tools to collect and analyse the thousands of genomes needed to quantify it. Due to the recent improvements in next gen sequencing technology ave addressed this challenge.

Finally scientists came to these conclusions after sequencing up to 1400 candidate breast cancer genes in 6,000 familial breast cancer patients and 6000 cancer free controls.