Familial Polyposis

Familial adenomatous polyposis detection and effects of early predictive genetic testing Familial adenomatous polyposis (FAP) is an autosomal dominant polyposis syndrome classically characterized by mutation in the APC gene on the long arm of chromosome 5. Patients are diagnosed with FAP had hundreds of thousands of adenomatous polyps in the large intestine (Poovorawan et al., 2012). Truncating germline mutation in the APC gene are responsible for 70-90% of FAP cases (Russo et al., 2014). FAP is

human genome that have given rise to treatments and cures for multiple genetic diseases, one of which is Familial Adenomatous Polyposis, also known as FAP. According to Half, Brocovich, and Rozen (2009)1, Familial Adenomatous Polyposis is characterized by the development of many tens of thousands adenomas in the rectum and colon during the second decade of life. Familial Adenomatous Polyposis is inherited as an autosomal dominant disease, which is the reason why there is a relatively equal occurrence

Familial Adenomatous Polyposis Syndrome Imagine having an almost 100% chance of developing colon cancer. That is what people are told with Familial Adenomatous Polyposis (FAP) if they do not have their over 100 polyps, or growths, removed. FAP is a genetic disorder where normal cells that line your large intestine can grow into cancerous tumors. These tumors must be removed before they become cancerous. This disorder is passed down from parents on the APC gene which is on your fifth chromosome

Colon Cancer What is the disease? Colon and rectal cancer develop in the digestive tract, which is also called the gastrointestinal, or GI, tract. The digestive system processes food for energy and rids the body of solid waste matter (fecal matter or stool). Colon cancer and rectal cancer have many features in common. Sometimes they are referred to together as colorectal cancer. Over 95% of colorectal cancers are ad enocarcinomas. These are cancers of the glandular cells that line the inside

“Colon cancer, which is also called rectal cancer. Colon cancer is a potentially, abnormal growth of the colon, a long muscular tube that is a part of pupr digestive system.” Scientist found the earliest person who got cancer who used to lived in the Dakhleh Oasis, which is a country of egypt, during the Ptolemaic period. Colon is an important part of our gastrointestinal tract, which include mouth, esophagus, stomach, duodenum, small intestine, colon, rectum, and anus. These organs connect together

There are all kinds of tumor markers of colon cancer, the classification is different. Some classic markers such as CA242, CA199, CA72-4, and CEA have been applied to clinical studies, and Some classic markers ,such as TGF,have the potential to serve as markers for colon cancer Clinical application. CEA Carcinoembryonic antigen (CEA) was first described more than four decades ago, Its main application is mostly in gastrointestinal cancers,especially in colorectal malignancy.CEA is a glycoprotein

Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference) At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that

history. This paper will cover one inherited genetic disease for which there is no cure, Fatal Familial Insomnia ("Self management of Fatal Familial Insomnia. Part 1: What is FFI?", 2006, p. 65). This particular disease was chosen due to its severity, swiftness with which it ends life, and its ability to exist undetected without symptoms for decades unless one’s family history is known. Fatal Familial Insomnia, (FFI), is a neurodegenerative prion disease classified as a Transmissible Spongiform

Introduction: Imagine having a disease, but not know about it for years. This was the case of Kayla, the individual that I interviewed for this research. Kayla has Familial Mediterranean fever (FMF) also known as the Armenian disease since 1 in 5 Armenians possess the gene for this disease. Discovered in 1997, FMF is a hereditary inflammatory disorder that produces physical pain in which affect individuals differently (Fisher et al). In Kayla’s case, she gets joint pain and has abdominal inflammation

Familial adenomatous polyposis detection and effects of early predictive genetic testing Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by mutation in the adenomatous polyposis coli (APC) suppressor gene on the long arm of chromosome 5 (Kennedy, Potter, Moir, & El-Youssef, 2014). Patients diagnosed with FAP had more than a hundred adenomatous polyps in their large intestine. FAP is dominantly inherited and is close to 100% penetrant (Hegde, Ferber, Mao, Samowitz, &