Germline mutations of the CDK4 gene have been reported in 18 familial cutaneous melanoma (CM) cases worldwide, with only 2 substitutions, the c.70C>T,p.Arg24Cys and c.71G>A,p.Arg24His, described to date. Moreover, the acquired CDK4 p.Asn41Ser variant has been related to sporadic metastatic malignant melanoma. we report the molecular studies of a familial case of CM carrying the new germline CDK4 c.71G>T,p.Arg24Leu. modulators.
A novel germline mutation in CDK4 codon 24 associated to familial melanoma / Bottillo, I; LA STARZA, SONIA ROBERTA; Radio, F C; Molica, C; Pedace, L; Pierini, T; De Bernardo, C; Stingeni, L; Bargiacchi, Sara; Paiardini, A; Janson, G; Mecucci, C; Grammatico, P. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 93:4(2018), pp. 934-935. [10.1111/cge.13129]
A novel germline mutation in CDK4 codon 24 associated to familial melanoma
Bottillo, I
Primo
;LA STARZA, SONIA ROBERTA;Pedace, L;BARGIACCHI, SARA;Paiardini, A;Janson, G;Grammatico, P
2018
Abstract
Germline mutations of the CDK4 gene have been reported in 18 familial cutaneous melanoma (CM) cases worldwide, with only 2 substitutions, the c.70C>T,p.Arg24Cys and c.71G>A,p.Arg24His, described to date. Moreover, the acquired CDK4 p.Asn41Ser variant has been related to sporadic metastatic malignant melanoma. we report the molecular studies of a familial case of CM carrying the new germline CDK4 c.71G>T,p.Arg24Leu. modulators.| File | Dimensione | Formato | |
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