CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition

SH Chan, J Chiang, J Ngeow - Hereditary cancer in clinical practice, 2021 - Springer
Although CDKN2A is well-known as a susceptibility gene for melanoma and pancreatic
cancer, germline variants have also been anecdotally associated with a broader range of …

[HTML][HTML] Familial melanoma: diagnostic and management implications

M Rossi, C Pellegrini, L Cardelli… - … practical & conceptual, 2019 - ncbi.nlm.nih.gov
Background An estimated 5%–10% of all cutaneous melanoma cases occur in families. This
review describes susceptibility genes currently known to be involved in melanoma …

High‐and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

C Pellegrini, L Cardelli, P Ghiorzo… - Journal of the …, 2023 - Wiley Online Library
Background Most of large epidemiological studies on melanoma susceptibility have been
conducted on fair skinned individuals (US, Australia and Northern Europe), while Southern …

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

M Harland, AE Cust, C Badenas, YM Chang… - Hereditary cancer in …, 2014 - Springer
Background Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From
three case-control studies of cutaneous melanoma, we estimated the prevalence and …

Unraveling the role of microRNA/isomiR network in multiple primary melanoma pathogenesis

E Dika, E Broseghini, E Porcellini, M Lambertini… - Cell Death & …, 2021 - nature.com
Malignant cutaneous melanoma (CM) is a potentially lethal form of skin cancer whose
worldwide incidence has been constantly increasing over the past decades. During their …

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation …

M Potrony, JA Puig-Butillé, P Aguilera… - Journal of the American …, 2014 - Elsevier
Background Cyclin-dependent kinase inhibitor 2A (CDKN2A) is the major high-risk
susceptibility gene for melanoma. Objective We sought to evaluate the effect of CDKN2A …

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup

W Bruno, L Pastorino, P Ghiorzo, V Andreotti… - Journal of the American …, 2016 - Elsevier
Background Multiple primary melanoma (MPM), in concert with a positive family history, is a
predictor of cyclin-dependent kinase (CDK) inhibitor 2A (CDKN2A) germline mutations. A …

CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015–2020: implications for novel national recommendations

M Pissa, T Helkkula, F Appelqvist, G Silander… - Acta …, 2021 - Taylor & Francis
Abstract Background: Inherited pathogenic variants (PVs) in the CDKN2A gene are among
the strongest known risk factors for cutaneous melanoma. Carriers are at high risks to …

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma

F Jouenne, IC de Beauchene, E Bollaert… - Journal of Medical …, 2017 - jmg.bmj.com
Background Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly
understood; both environmental and genetic risk factors could contribute to their aetiology …

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

TP Potjer, H Helgadottir, M Leenheer… - Journal of Medical …, 2018 - jmg.bmj.com
Background Several factors have been reported that influence the probability of a germline
CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to …