Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

BAP1 is a deubiquitylase that is found associated with multiprotein complexes that regulate
key cellular pathways, including the cell cycle, cellular differentiation, cell death …

Disclaimer: The practice guidelines of the American College of Medical Genetics and
Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed …

Inhibitors of cyclin-dependent kinases (CDKs) 4/6 have emerged as a powerful class of
agents with clinical activity in several malignancies. Targeting the cell cycle represents a …

Melanoma is often considered one of the most aggressive and treatment-resistant human
cancers. It is a disease that, due to the presence of melanin pigment, was accurately …

Approximately 10% of melanoma cases report a relative affected with melanoma, and a
positive family history is associated with an increased risk of develo** melanoma …

The past two decades have witnessed an explosion in our understanding of pancreatic
cancer, and it is now clear that pancreatic cancer is a disease of inherited (germ-line) and …

Malignant melanoma is considered the most lethal skin cancer if it is not detected and
treated during its early stages. About 10% of melanoma patients report a family history of …

Background: The major factors individually reported to be associated with an increased
frequency of CDKN2A mutations are increased number of patients with melanoma in a …

GenoMEL, comprising major familial melanoma research groups from North America,
Europe, Asia, and Australia has created the largest familial melanoma sample yet available …