Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder equally affecting males and females with an incidence of 1/25,000 – 1/300,000 births. It characterised by the development hamartomatous polyps digestive tract, lifetime risk colorectal cancer other gastrointestinal malignancies, as well non-gastrointestinal cancers such breast ovarian cancers. Intestinal polyposis very common in...

Breast cancer is the most common malignancy among females. 5%-10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations ...