How is APC gene mutation detected?
How is APC gene mutation detected?
Mutation detection in the APC gene can be performed using different methodologies such as PCR-based Sanger sequencing and next generation sequencing (NGS)-based assays.
What is APC gene mutation?
Mutations in the APC gene are also responsible for a disorder called Turcot syndrome, which is closely related to familial adenomatous polyposis. Turcot syndrome is an association of colorectal cancer with a type of cancerous brain tumor called a medulloblastoma.
Is APC mutation dominant?
Familial adenomatous polyposis is caused by germline (present in the first cell of the embryo) mutations in the APC gene and is inherited in an autosomal dominant manner, meaning that on average 50% of children of an affected parent will have the disease passed on to them.
How many exons does APC?
The APC gene consists of 8535 bp spanning 21 exons (36), and encodes a 2843-amino acid protein in its commonest isoform (37).
How common is APC mutation?
APC is altered in 10.59% of all cancers with colon adenocarcinoma, colorectal adenocarcinoma, rectal adenocarcinoma, lung adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].
Where is the APC gene located?
The human APC gene is located on the long (q) arm of chromosome 5 in band q22. 2 (5q22.
What does APC do in Wnt signaling?
By negatively regulating canonical WNT signaling, APC counteracts proliferation, promotes differentiation, facilitates apoptosis and suppresses invasion and tumor progression. APC further antagonizes canonical WNT signaling by interacting with and counteracting β-catenin in the nucleus.
Is APC gene recessive?
When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Which chromosome is APC gene on?
The human APC gene is located on the long (q) arm of chromosome 5 in band q22. 2 (5q22. 2). The APC gene has been shown to contain an internal ribosome entry site.
What chromosome is APC on?
What causes APC?
Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously.
Which molecules are involved in the APC pathway?
The APC/β-catenin pathway is highly regulated and includes molecules such as GSK3, CBP, Groucho, Axin, Conductin, and TCF. Furthermore, c-MYC and cyclin D1 have been identified as key transcriptional targets of this pathway, indicating a broad overlap between several tumor-permissive pathways.
What happens if the APC gene is mutated?
In some types of colon cancer, stem cells have a mutation in the APC gene. What happens if the APC gene is mutated? The stem cells have trouble making it through the final stage of differentiation = they start to pile up = they form a tumor.
What is the APC gene?
APC (gene): A major gene that is involved in causing colorectal cancer. APC is involved in both sporadic and familial forms of colorectal cancer. A mutation in the APC gene is the earliest detectable molecular abnormality in colorectal cancer. This mutation imitates the neoplastic process 20 to 30 years before the malignancy itself is full-blown.
What is germline APC gene mutation?
Germline mutations in the APC gene are responsible for the autosomal dominant inherited disease familial adenomatous polyposis (FAP) , while somatic mutations in APC occur in ~80% of sporadic colorectal tumours. APC mutations almost always result in a truncated protein product with abnormal function.
