What type of gene is CDKN2A?

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tumor suppressor gene

This may cause abnormal cells, including cancer cells, to grow. CDKN2A gene mutations have been found in melanoma and in many other types of cancer. The CDKN2A gene is a type of tumor suppressor gene.

Is CDKN2A inherited?

CDKN2A gene mutations are found in up to 40 percent of familial cases of melanoma, in which multiple family members develop the cancer. These mutations, classified as germline mutations, are typically inherited and are present in essentially all of the body’s cells.

How common is CDKN2A mutation?

Melanoma-pancreatic carcinoma syndrome is a rare inherited cancer predisposition syndrome caused by a heterozygous mutation in the CDKN2A gene on chromosome 9p21. Germline CDKN2A mutations are rare in the whole population (<0.1%) with clusters seen in familial melanoma probands [1].

Does everyone have CDKN2A gene?

Everyone has two copies of the CDKN2A gene, which we randomly inherit from each of our parents. Mutations in one copy of the CDKN2A gene can increase the chance for you to develop certain types of cancer in your lifetime. People with a CDKN2A mutation have familial atypical multiple mole melanoma (FAMMM) syndrome.

Where is the CDKN2A gene?

chromosome 9
The name CDKN2A stands for “Cyclin-Dependent Kinase Inhibitor 2A.” The gene provides instructions for making several tumor suppressor proteins. The CDKN2A gene is located on chromosome 9.

What is CDKN2A loss?

CDKN2A Loss is an inclusion criterion in 1 clinical trial for anaplastic astrocytoma, of which 0 are open and 1 is closed. Of the trial that contains CDKN2A Loss and anaplastic astrocytoma as inclusion criteria, 1 is phase 1 (0 open) [5].

Is CDKN2A a tumor suppressor gene?

CDKN2A is one of the most studied tumor suppressor genes. It encodes the p16-INK4a protein that plays a critical role in the cell cycle progression, differentiation, senescence, and apoptosis. Mutations in CDKN2A or dysregulation of its functional activity are frequently associated with various types of human cancer.

What is CDKN2A deletion?

CDKN2A is one such tumor suppressor gene which encodes p16INK4a protein and serves as an inhibitor of cell cycle progression. Very few studies are available regarding the association of CDKN2A deletion with p16 protein expression in GBMs.

What is CDKN2A B homozygous deletion?

CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas. Neuro Oncol . 2019;21:1519-1528. Yoda RA, Marxen T, Longo L, et al. Mitotic Index Thresholds Do Not Predict Clinical Outcome for IDH-Mutant Astrocytoma.

What does homozygous deletion mean?

Hemizygous deletion refers to the loss of one of the alleles, whereas homozygous (biallelic) deletion refers to the loss of both alleles identified by allele-specific analysis in the clinical samples.