What is the function of p63?

The p63 protein functions as a transcription factor, which means it attaches (binds) to certain regions of DNA and controls the activity of particular genes. The p63 protein interacts with other proteins to turn many different genes on and off at different times.

What happens if the APC gene is mutated?

People with mutations in the APC gene have familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). You have an increased chance to develop multiple gastrointestinal polyps, colorectal cancer, and possibly other cancers. There are risk management options to detect cancer early or lower the risk to develop cancer.

What does APC gene stand for?

Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2. 5) is a protein that in humans is encoded by the APC gene. The APC protein is a negative regulator that controls beta-catenin concentrations and interacts with E-cadherin, which are involved in cell adhesion.

How common is APC mutation?

The most common alterations in APC are APC Mutation (10.32%), APC R1450* (0.60%), APC T1556fs (0.52%), APC R876* (0.50%), and APC E1309fs (0.39%) [3].

What is APC responsible for?

The APC protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way. It helps control how often a cell divides, how it attaches to other cells within a tissue, and whether a cell moves within or away from a tissue.

What gene is ATM?

The gene associated with A-T is ATM, meaning ataxia telangiectasia mutated.

Is APC a recessive gene?

APC-associated polyposis conditions are inherited in an autosomal dominant manner. Approximately 20–25% have the altered gene as the result of a de novo gene mutation.

What does a positive p63 mean?

P63: scored positive when high intensity staining was present on ≥50% of tumor cells; the remainder was scored negative [10]. TTF-1: scored positive when staining was present on ≥5% of tumor cells; the remainder was scored negative [11].

What does p63 positive mean in breast?

P63 is a positive prognostic factor in endocrine-treated ER positive breast cancer and might influence responsiveness to endocrine treatment. Thus, p63 could be helpful as a predictive factor for endocrine therapy.

What is Napsin A?

Napsin A (Nap-A) is a functional aspartic proteinase that may be an alternative marker for primary lung ACA. Objectives: To compare Nap-A versus TTF-1 in the typing of primary lung carcinoma and the differentiation of primary lung ACA from carcinomas of other sites.