Inherited mutations of the tumour suppressor gene CDKN2A are the strongest known risk factors for familial melanoma and mutations in this gene also increase the risk of other cancers. Children ...

Inherited mutations in the CDKN2A tumor suppressor gene have been implicated in the development of melanoma, as have non-inherited (acquired) mutations in the UV-inducible proto-oncogene NRAS.

Genetic testing for CDKN2A mutations is similar in some respects to testing for other familial cancer syndromes, such as Hereditary Breast/Ovarian Cancer Syndrome (HBOC), but there are important ...

2,8 Family members were invited to undergo germ-line CDKN2A mutation analysis for the study. Informed consent was obtained from all participants and the study was approved by local ethical review ...

Helgadottir H, Ghiorzo P, van Doorn R, et al. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations [published online October 5, 2018]. J Med ...

They suggest that if a person with Barrett's esophagus has an early CDKN2A mutation but no mutations in p53, it could indicate that their condition is less likely to progress to cancer.

Researchers from Karolinska Institute in Sweden studied people with melanoma who carry mutations in CDKN2A gene and have poor prognosis, and whether drugs given as intravenous infusion effectively ...

In a new study, researchers at Karolinska Institutet and elsewhere have examined how effective immunological checkpoint therapy is for individuals with inherited CDKN2A mutation and metastatic ...

Surveillance of patients carrying the CDKN2A gene mutation led to earlier detection of pancreatic ductal adenocarcinoma which improved disease prognosis, according to a presenter at UEG Week.

We have screened for CDKN2A germline mutations in 49 Jewish families with two or more cases of melanoma. The Val59Gly mutation, one of the three different alterations identified among these ...

The study is published in the Journal of Medical Genetics. Congenital mutations of the CDKN2A gene are the strongest known risk factors for inherited skin cancer. Individuals with melanoma who ...