CDKN2A, also known as cyclin-dependent kinase inhibitor 2A, is a gene which in humans is located at chromosome 9, band p21.3. [5] It is ubiquitously expressed in many tissues and cell types. [6] The gene codes for two proteins, including …

Jul 17, 2023 · If you have a mutation in the CDKN2A gene, this means you have a condition called Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome. FAMMM syndrome increases your risk for certain types of cancers, including:

Dec 24, 2024 · CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) is a Protein Coding gene. Diseases associated with CDKN2A include Melanoma, Cutaneous Malignant 2 and Melanoma-Pancreatic Cancer Syndrome.

The CDKN2A gene provides instructions for making several proteins. The most well-studied are the p16 (INK4A) and the p14 (ARF) proteins. Both function as tumor suppressors, which means they keep cells from growing and dividing too rapidly or in an uncontrolled way.

Mutations in the CDKN2A gene present one of the most prevalent causes of increased susceptibility to pancreatic cancer. The potential founder effect of the identified mutations cannot be excluded, as the c.71G>C and c.159G>C variants were found in multiple cases.

Mar 13, 2025 · What can people with a CDKN2A mutation do? Experts have created guidelines which estimate cancer risks and outline recommendations for managing these risks in people with a CDKN2A mutation. There may be family planning concerns and options for people with an inherited CDKN2A mutation.

Germline mutations on the CDKN2A gene, the most important known genetic factors associated with cutaneous melanomas (CMs), predispose carriers to multiple primary CMs (MPMs) with higher frequency and younger onset compared to non-carriers. A novel function of p14ARF to inhibit PIAS1 by enhancing SUMOylation.

Sep 22, 2024 · People with an inherited mutation in the CDKN2A gene have an increased risk for certain types of cancer. Read more about these cancer risks. FORCE is here to guide you.

Mar 25, 2021 · CDKN2A (cyclin dependent kinase inhibitor 2A, OMIM 600160) is a tumor suppressor gene that encodes for two proteins, namely p16 INK4A and p14 ARF, critical for the regulation of cell cycle pathways.

Jan 1, 2001 · CDKN2A—the Gene. CDKN2A has been given different names (p16 INK4, p16 INK4A, CDK4I, MTS1, and p16) by different investigators, but was recently assigned the designation CDKN2A (for cyclin dependent kinase inhibitor 2A) by the Human Genome Organisation nomenclature committee.