- Diet
- Cancer
- Colorectal Cancer
- Prostate Cancer
- Breast Cancer
- Adenoid Cystic Carcinoma
- Amyloidosis
- Anal Cancer
- Appendix Cancer
- Astrocytoma - Childhood
- Ataxia-Telangiectasia
- Beckwith-Wiedemann Syndrome
- Bile Duct Cancer (Cholangiocarcinoma)
- Birt-Hogg-Dubé Syndrome
- Bladder Cancer
- Bone Cancer (Sarcoma of Bone)
- Brain Stem Glioma - Childhood
- Brain Tumor
- Breast Cancer - Inflammatory
- Breast Cancer - Metastatic
- Breast Cancer - Male
- Carney Complex
- Central Nervous System Tumors (Brain and Spinal Cord) - Childhood
- Cervical Cancer
- Childhood Cancer
- Cowden Syndrome
- Craniopharyngioma - Childhood
- Desmoid Tumor
- Desmoplastic Infantile Ganglioglioma, Childhood Tumor
- Ependymoma - Childhood
- Esophageal Cancer
- Ewing Sarcoma - Childhood and Adolescence
- Eye Melanoma
- Eyelid Cancer
- Familial Adenomatous Polyposis
- Familial GIST
- Familial Malignant Melanoma
- Familial Pancreatic Cancer
- Gallbladder Cancer
- Gastrointestinal Stromal Tumor - GIST
- Germ Cell Tumor - Childhood
- Gestational Trophoblastic Disease
- Head and Neck Cancer
- Hereditary Breast and Ovarian Cancer
- Hereditary Diffuse Gastric Cancer
- Hereditary Leiomyomatosis and Renal Cell Cancer
- Hereditary Mixed Polyposis Syndrome
- Hereditary Pancreatitis
- Hereditary Papillary Renal Carcinoma
- HIV/AIDS-Related Cancer
- Juvenile Polyposis Syndrome
- Kidney Cancer
- Laryngeal and Hypopharyngeal Cancer
- Leukemia - Acute Lymphoblastic - ALL - Childhood
- Leukemia - Acute Lymphocytic - ALL
- Leukemia - Acute Myeloid - AML
- Leukemia - Acute Myeloid - AML - Childhood
- Leukemia - B-cell Prolymphocytic Leukemia and Hairy Cell Leukemia
- Leukemia - Chronic Lymphocytic - CLL
- Leukemia - Chronic Myeloid - CML
- Leukemia - Chronic T-Cell Lymphocytic
- Leukemia - Eosinophilic
- Li-Fraumeni Syndrome
- Liver Cancer
- Lung Cancer - Non-Small Cell
- Lung Cancer - Small Cell
- Lymphoma - Hodgkin
- Lymphoma - Hodgkin - Childhood
- Lynch Syndrome
- Lymphoma - Non-Hodgkin - Childhood
- Lymphoma - Non-Hodgkin
- Mastocytosis
- Medulloblastoma - Childhood
- Melanoma
- Meningioma
- Mesothelioma
- Multiple Endocrine Neoplasia Type 1
- Multiple Endocrine Neoplasia Type 2
- Multiple Myeloma
- MUTYH (or MYH)-Associated Polyposis
- Myelodysplastic Syndromes - MDS
- Nasal Cavity and Paranasal Sinus Cancer
- Nasopharyngeal Cancer
- Neuroblastoma - Childhood
- Neuroendocrine Tumor of the Gastrointestinal Tract
- Neuroendocrine Tumor of the Lung
- Neuroendocrine Tumor of the Pancreas
- Neuroendocrine Tumors
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Nevoid Basal Cell Carcinoma Syndrome
- Oral and Oropharyngeal Cancer
- Osteosarcoma - Childhood and Adolescence
- Ovarian, Fallopian Tube, and Peritoneal Cancer
- Pancreatic Cancer
- Parathyroid Cancer
- Penile Cancer
- Peutz-Jeghers Syndrome
- Pheochromocytoma and Paraganglioma
- Pituitary Gland Tumor
- Pleuropulmonary Blastoma - Childhood
- Retinoblastoma - Childhood
- Rhabdomyosarcoma - Childhood
- Salivary Gland Cancer
- Sarcoma - Kaposi
- Sarcomas, Soft Tissue
- Skin Cancer (Non-Melanoma)
- Small Bowel Cancer
- Stomach Cancer
- Testicular Cancer
- Thymoma and Thymic Carcinoma
- Thyroid Cancer
- Tuberous Sclerosis Complex
- Unknown Primary
- Uterine Cancer
- Vaginal Cancer
- Von Hippel-Lindau Syndrome
- Vulvar Cancer
- Waldenstrom Macroglobulinemia (Lymphoplasmacytic Lymphoma)
- Werner Syndrome
- Wilms Tumor - Childhood
- Xeroderma Pigmentosum
- Veterans with Cancer
- Insurance and Cancer
- Prayers for Cancer Healing
- Prayers for Cancer Survival
- Pharmacology - Cancer Oncology drugs
- Natural Cures for Cancer
- Cancer Causing Foods
- Cancer Fighting Foods
- Kaposi Sarcoma
- Nausea and Vomiting in Cancer
- Adrenocortical Carcinoma
- Adolescents and Young Adults with Cancer
- Basal Cell Carcinoma of the Skin
- Burkitt Lymphoma
- Pancreatic Cancer
- Pain Management in Cancer
- CBD and Cancer Patients
- Cancer Treatment
- Stoma Bag
- Cancer Bra
- Cancer Wigs
- Lymphedema and Cancer
- Ductal Carcinoma In Situ (DCIS)
- Mouth Cancer
- Pregnancy and Breast Cancer
- Endometrial Cancer
- Heart Tumors, Childhood
- Merkel Cell Carcinoma
- Urethral Cancer
- Cancer in Young Adults
- Exercise and Cancer
- Insurance Denial and Cancer
- Bronchial Tumors
- Colostomy and Cancer
- Tube Feeding and Cancer
- Chronic Myeloproliferative Neoplasms
- Pulmonary Inflammatory Myofibroblastic Tumor
- Cutaneous T-Cell Lymphoma
- Fallopian Tube Cancer
- Breast Prostheses after Mastectomy
- Vascular Tumors
- Urethral cancer
- Music
The Wnt / Beta-Catenin Pathway and Familial Adenomatous Polyposis Part 1
Familial Adenomatous Polyposis (FAP) is an inherited genetic condition which predisposes individuals to the formation of colonic polyps. Individuals with the condition typically end up with a colon that is full of polyps.
Familial Adenomatous Polyposis is caused by an inherited mutation in one of the copies of the gene for the APC protein (Adenomatous Polyposis Coli protein, named such because of its involvement in this condition). This protein is involved in an important intracellular signalling mechanism called the Wnt/Beta-Catenin pathway which is involved in controlling cellular division. Mutations in the APC genes result in loss of function of the protein. If both genes are lost inside a cell, then that cell will have no functional APC protein. This results in complete disfunction of the Wnt/Beta-Catenin pathway and the cell ends up dividing excessively producing a whole population of cells with the same mutation. When this occurs in colonic epithelial cells, it physically manifests as a polyp.
An individual with two normal inherited APC genes needs a colonic epithelial cell to have suffered loss of function mutations of both APC genes in order for a polyp to arise. Individuals with Familial Adenomatous Polyposis have one inherited mutation already. So for their colonic epithelial cells it is only necessary for them to acquire one mutation in order for a polyp to arise. This one hit is far more likely than the two hits it would take for someone without the inherited mutation. Hence it occurs far more frequently and individuals with FAP end up with far more polyps.
In this video we discuss the Wnt / Beta-catenin pathway in detail and where the APC protein fits into this pathway. From this we can understand how loss of the APC protein would lead to excessive cell division. We then discuss FAP in which the inherited loss of one of the APC genes means that if a cell were to develop a mutation in the second of the two genes it would lose control of this pathway and excessive division would follow. Indeed this is what happens for these individuals and the most predisposed location for the second genetic hit to occur is the colonic epithelial cells and this is where they end up with multiple tumours.
SORT BY-
Top Comments
-
Latest comments