[HTML][HTML] Update in genetic susceptibility in melanoma

M Potrony, C Badenas, P Aguilera… - Annals of …, 2015 - ncbi.nlm.nih.gov
Melanoma is the most deadly of the common skin cancers and its incidence is rapidly
increasing. Approximately 10% of cases occur in a familial context. To date, cyclin …

Melanoma genetics

J Read, KAW Wadt, NK Hayward - Journal of medical genetics, 2016 - jmg.bmj.com
Approximately 10% of melanoma cases report a relative affected with melanoma, and a
positive family history is associated with an increased risk of developing melanoma …

Germline mutations predisposing to melanoma

A Toussi, N Mans, J Welborn… - Journal of cutaneous …, 2020 - Wiley Online Library
Nearly 15% of melanomas occur in patients with a family history and a subset of these
patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations …

Genetics of familial melanoma: 20 years after CDKN2A

LG Aoude, KAW Wadt, AL Pritchard… - Pigment cell & …, 2015 - Wiley Online Library
Twenty years ago, the first familial melanoma susceptibility gene, CDKN 2A, was identified.
Two years later, another high‐penetrance gene, CDK 4, was found to be responsible for …

[HTML][HTML] Familial melanoma and susceptibility genes: a review of the most common clinical and dermoscopic phenotypic aspect, associated malignancies and …

L Zocchi, A Lontano, M Merli, E Dika, E Nagore… - Journal of clinical …, 2021 - mdpi.com
A family history of melanoma greatly increases the risk of developing cutaneous melanoma,
a highly aggressive skin cancer whose incidence has been steadily increasing worldwide …

The genetics of uveal melanoma: current insights

H Helgadottir, V Höiom - The application of clinical genetics, 2016 - Taylor & Francis
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting~ 7,000
individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and …

The role of inherited pathogenic CDKN2A variants in susceptibility to pancreatic cancer

H Kimura, AP Klein, RH Hruban, NJ Roberts - Pancreas, 2021 - journals.lww.com
CDKN2A is cell cycle negative regulator, and the role of CDKN2A in the development of
pancreatic ductal adenocarcinoma, which continues to be a lethal cancer, is well …

Genetics of melanoma progression: the rise and fall of cell senescence

DC Bennett - Pigment cell & melanoma research, 2016 - Wiley Online Library
There are many links between cell senescence and the genetics of melanoma, meaning
both familial susceptibility and somatic–genetic changes in sporadic melanoma. For …

[HTML][HTML] Germline TERT promoter mutations are rare in familial melanoma

M Harland, M Petljak, CD Robles-Espinoza, Z Ding… - Familial cancer, 2016 - Springer
Germline CDKN2A mutations occur in 40% of 3-or-more case melanoma families while
mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP, POT1) …

Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases

H Helgadottir, V Höiom, R Tuominen… - Journal of the …, 2016 - academic.oup.com
Background: Germline mutations in CDKN2A have been associated with increased risk of
melanoma and tobacco-related cancers in respiratory and upper digestive tissues. In …