CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition
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 …
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 …
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 …
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
Background Mutations in the CDKN2A and CDK4 genes predispose to melanoma. From
three case-control studies of cutaneous melanoma, we estimated the prevalence and …
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 …
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 …
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
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 …
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 …
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 …
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 …
CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to …