Original articleIncreased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: Implications for genetic counseling
Section snippets
Patients
A cross-sectional study design was used to analyze the CDKN2A impact in patients with a high risk of developing melanoma. Overall, 702 patients with melanoma were included in the study: 236 patients with sporadic multiple primary melanoma (SMP), and 466 patients with familial melanoma belonging to 330 high-risk melanoma-prone families with at least 2 melanoma cases (269 families with 2 melanoma cases, 47 families with 3 melanoma cases, 11 families with 4 melanoma cases, and 3 families with 5
Results
CDKN2A and CDK4 were tested in 702 patients with melanoma: 236 patients with SMP and 466 with familial melanoma belonging to 330 high-risk melanoma-prone families with at least 2 melanoma cases. Overall, 32 germline CDKN2A mutations were identified: 18 previously described mutations,13, 19, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31 9 mutations previously observed at the somatic level,32, 33 and 5 novel unreported mutations (data available on request). CDK4 mutations were not observed.
Several
Discussion
In this study we have explored the effect of germline mutations in CDKN2A, which is the major high-risk melanoma susceptibility gene, in the largest Spanish cohort to our knowledge of patients at high risk (SMP and familial melanoma cases). Overall, we found a slightly increased prevalence of CDKN2A mutations in melanoma-prone families than in SMP, consistent with that reported in similar studies from other Mediterranean areas.34, 35, 36
Previous studies have found an association between the
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2018, Anais Brasileiros de DermatologiaCitation Excerpt :Studies have shown an increased risk of developing pancreatic carcinoma in European and North American families with CDKN2A mutations.12 Additionally, FMS may be associated with other cancers, such as central nervous system tumors, uveal melanoma, lung and breast carcinomas.12-15 We have been monitoring families at high risk for cutaneous melanoma since June 2010.
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium
2023, Journal of the European Academy of Dermatology and Venereology
The research at the Melanoma Unit in Barcelona is partially funded by Spanish Fondo de Investigaciones Sanitarias grants 09/01393 and 12/00840; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) of the Instituto de Salud Carlos III, Spain; Agència de Gestió d'Ajuts Universitaris i de Recerca (AGAUR) grant 2009 SGR 1337 of the Catalan Government, Spain; European Commission under the Sixth Framework Program, contract no. LSHC-CT-2006-018702 (GenoMEL); and National Cancer Institute of the US National Institutes of Health (CA83115). Ms Potrony had a personal grant from the CIBERER of the Instituto de Salud Carlos III, Spain. The work was carried out at the Esther Koplowitz Center, Barcelona.
Ms Potrony and Dr Puig-Butillé contributed equally to this work.
Conflicts of interest: None declared.