Genetic alterations in the ink4a/arf locus: effects on melanoma development and progression

Z Ming, SY Lim, H Rizos - Biomolecules, 2020 - mdpi.com
Genetic alterations in the INK4a/ARF (or CDKN2A) locus have been reported in many
cancer types, including melanoma; head and neck squamous cell carcinomas; lung, breast …

Involvement of the INK4a-ARF locus in genetic predisposition to familial melanoma and in skin carcinogenesis

N Soufir, N Basset-Seguin - Bulletin du Cancer, 2001 - jle.com
The INK4a-ARF locus, localized on 9p21, encodes two tumor suppressor proteins,
p16INK4a and p14ARF, acting respectively through the CDK4-pRb and the p53 pathways …

Predicting functional significance of cancer‐associated p16INK4a mutations in CDKN2A

HA McKenzie, C Fung, TM Becker, M Irvine… - Human …, 2010 - Wiley Online Library
Inherited mutations affecting the INK4a/ARF locus (CDKN2A) are associated with melanoma
susceptibility in 40% of multiple case melanoma families. Over 60 different germline …

Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF

H Rizos, AP Darmanian, EA Holland, GJ Mann… - Journal of Biological …, 2001 - ASBMB
The INK4a/ARF locus encodes two cell cycle regulatory proteins, the cyclin-dependent
kinase inhibitor, p16 INK4a, and the p53 activator, p14 ARF. Germline mutations in this locus …

CDKN2A point mutations D153spl (c. 457G> T) and IVS2+ 1G> T result in aberrant splice products affecting both p16INK4a and p14ARF

JL Rutter, AM Goldstein, MR Davila, MA Tucker… - Oncogene, 2003 - nature.com
The CDKN2A gene, which encodes the proteins p16 INK4a and p14 ARF, is located on
chromosome 9p21. Germline mutations at this locus increase susceptibility to cutaneous …

The INK4a/ARF locus and melanoma

NE Sharpless, L Chin - Oncogene, 2003 - nature.com
Inactivation of the INK4a/ARF (or CDKN2a) locus is a common and critical genetic event in
the development of human and mouse melanoma. This locus engages the Rb and p53 …

[HTML][HTML] CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds

MC Fargnoli, S Chimenti, K Peris, G Keller… - Journal of investigative …, 1998 - Elsevier
Germline mutations in the cyclin-dependent kinase inhibitor 2a (CDKN2a) gene, which
maps to the 9p21 chromosomal region and encodes the cyclin-dependent kinase inhibitor …

[PDF][PDF] Advances in malignant melanoma: genetic insights from mouse and man

O Kabbarah, L Chin - Front Biosci, 2006 - article.imrpress.com
[Frontiers in Bioscience 11, 928-942, January 1, 2006] 928 Advances in malignant melanoma:
genetic insights from mouse and man O Page 1 [Frontiers in Bioscience 11, 928-942, January …

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 …

Functional impairment of p16INK4A due to CDKN2A p. Gly23Asp missense mutation

MC Scaini, E Rossi, PLA de Siqueira Torres… - Mutation Research …, 2009 - Elsevier
The CDKN2A locus encodes for two distinct tumor suppressor proteins, p16INK4A and
p14ARF, involved in cell cycle regulation. CDKN2A germline mutations have been …