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عنوان
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome

پدید آورنده
Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola,Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola

موضوع

رده

کتابخانه
Center and Library of Islamic Studies in European Languages

محل استقرار
استان: Qom ـ شهر: Qom

Center and Library of Islamic Studies in European Languages

تماس با کتابخانه : 32910706-025

NATIONAL BIBLIOGRAPHY NUMBER

Number
LA5t22m5gk

LANGUAGE OF THE ITEM

.Language of Text, Soundtrack etc
انگلیسی

TITLE AND STATEMENT OF RESPONSIBILITY

Title Proper
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome
General Material Designation
[Article]
First Statement of Responsibility
Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola

SUMMARY OR ABSTRACT

Text of Note
Pancreatic cancer-melanoma syndrome (PCMS) is an inherited condition in which mutation carriers have an increased risk of malignant melanoma and/or pancreatic cancer. About 30% of PCMS cases carry mutations in CDKN2A. This gene encodes several protein isoforms, one of which, known as p16, regulates the cell-cycle by interacting with CDK4/CDK6 kinases and with several non-CDK proteins. Herein, we report on a novel CDKN2A germline in-frame deletion (c.52_57delACGGCC) found in an Italian family with PCMS. By segregation analysis, the c.52_57delACGGCC was proven to segregate in kindred with cutaneous melanoma (CM), in kindred with CM and pancreatic cancer, and in a single case presenting only with pancreatic cancer. In the literature, duplication mapping in the same genic region has been already reported at the germline level in several unrelated CM cases as a variant of unknown clinical significance. A computational approach for studying the effect of mutational changes over p16 protein structure showed that both the deletion and the duplication of the c.52_57 nucleotides result in protein misfolding and loss of interactors' binding. In conclusion, the present results argue that the quantitative alteration of nucleotides c.52_57 has a pathogenic role in p16 function and that the c.52_57delACGGCC is associated with PCMS.

SET

Date of Publication
2020
Title
Dermatology Online Journal
Volume Number
26/8

PERSONAL NAME - PRIMARY RESPONSIBILITY

Entry Element
Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola

ELECTRONIC LOCATION AND ACCESS

Electronic name
 مطالعه متن کتاب 

[Article]
275578

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Y

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