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As per available reports about two relevant journals, two Conferences, four workshops are presently dedicated exclusively to Familial Adenomatous Polyposis and two articles are being published on classic FAP.
Classic familial adenomatous polyposis, called FAP or classic FAP, an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. If a parent has FAP, each child has a 50% (or, 1 in 2) chance of inheriting FAP. Each child also has a 50% chance of not inheriting FAP. FAP does not skip generations. Both males and females are equally likely to be affected.
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Approximately 1 in 10,000 babies born live will have FAP resulting from a germline adenomatous polyposis coli (APC) mutation. Because this is an autosomal-dominant condition, males and females are equally affected. There do not appear to be significant racial, ethnic, or geographical differences in the incidence of FAP, nor do environmental factors appear to affect the disease incidence. It occurs in approximately one in 5,000 to 10,000 individuals in the United States. One estimate suggests that familial adenomatous polyposis affects 50,000 American families. According to national registries, familial adenomatous polyposis occurs in 2.29-3.2 per 100,000 individuals. Up to 30% of FAP probands have no family history of polyposis and presumably these people have spontaneous mutations in APC. Only 1% of all colorectal cancer is secondary to FAP. The spontaneous mutation rate for attenuated FAP is unknown, as occurrence of the disease is probably underestimated because of the more subtle polyp phenotype and later age of onset of colorectal cancer that may mimic sporadic colorectal cancer, rather than attenuated FAP. 2.29 to 3.2 per 100,000 individuals with APC-associated polyposis conditions historically accounted for about 0.5% of all colorectal cancers; this figure is declining as more at-risk family members undergo successful treatment following early polyp detection and prophylactic colectomy.
Familial adenomatous polyposis(FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoids tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoids tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome. The genetic defect in FAP is a germ line mutation in the adenomatous polyposis coli (APC) gene. Syndromes with a germ line mutation in the APC gene include FAP, Gardner syndrome, some families with Turcot syndrome, and attenuated adenomatous polyposis coli (AAPC). Gardner syndrome is characterized by colonic polyposis typical of FAP, along with osteomas (bony growth most commonly on the skull and the mandible), dental abnormalities, and soft tissue tumors. Turcot syndrome is characterized by colonic polyposis typical of FAP, along with central nervous system tumors (medulloblastoma). AAPC is characterized by fewer colonic polyps (average number of polyps, 30-35) as compared to classic FAP. The polyps also tend to develop at a later age (average age, 36 y), and they tend to involve the proximal colonic area. Some of the researches already been done and some current researches on FAP are:
The Effect of Celecoxib, a Cyclooxygenase-2 Inhibitor, in Familial Adenomatous Polyposis, The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis, Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate, The Use and Interpretation of Commercial APC Gene Testing for Familial Adenomatous Polyposis, Familial colorectal cancer in Ashkenazim due to a hyper mutable tract in APC, Cyclooxygenase-2 Overexpression and Tumor Formation Are Blocked by Sulindac in a Murine Model of Familial Adenomatous Polyposis and many more.
The CRC therapeutics market in the eight major markets is expected to grow at a Compound Annual Growth Rate (CAGR) of 1.8% to $9.4 billion by 2020. The US had the largest market share in 2013, equivalent to a global share of 44.1%, followed by Japan and Germany with 14.7% and 11.9% respectively. Spain had the lowest market share of the leading eight at 4.1%. All markets covered in the report are expected to witness a slower growth rate than Japan, which will grow at a CAGR of 5%. However, this moderate growth will be stymied by the expected uptake of lower-priced biosimilar versions of bevacizumab and cetuximab due to the expiration of the patents of Avastin and Erbitux in the latter half of the forecast period. Also expected is the launch of generic versions of capecitabine, which will also affect the market. However, this will be offset by the launch of premium-priced emerging therapies. Stivarga is expected to be one of the biggest drivers of growth in the CRC market, primarily due to its expected line extension in the first-line metastatic setting as a maintenance treatment for patients with resected liver metastases. The launch of Lonsurf (TAS-102), approved in Japan in 2014, in the third- and fourth-line settings will further increase the pharmacological treatment rates in these lines, which will give patients a more tolerable alternative to Stivarga. The moderate uptake of other late-stage pipeline products, panitumumab and Xilonix, following their expected approval, is expected to drive additional growth within this market.
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This page was last updated on November 22, 2024