Familial Adenomatous Polyposis

People with this inherited disorder are likely to develop several kinds of tumors, including, in some cases, renal cell carcinoma.

Researchers have associated mutations in specific genes with more than 50 hereditary cancer syndromes, which are disorders that may predispose individuals to developing certain cancers. Genetic tests can tell whether a person

Colon cancer is a condition in which polyps form in the lining of the colon (large intestine).

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

Familial melanoma is a genetic or inherited condition. This means that the risk of having a melanoma can be passed from generation to generation in a family. Ordinarily, each cell has two copies of each gene: one inherited from the mother and one inherited from the father. Familial melanoma follows a dominant inheritance pattern, in which case a mutation happens in only one copy of the gene. As every cell has two copies of each gene, it means that a parent can potentially pass along a copy of his or her normal gene or a copy of the mutated gene. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A related person such as a brother or a parent of the person who has a mutation also has a 50% chance of having the same mutation.

Familial adenomatous polyposis (FAP) is a genetic disease that can be inherited. If a person has FAP, they are likely to get colorectal cancer. If FAP is not treated, there is about a 100% chance you will receive colorectal cancer. FAP produces growths with mucus on the inside walls of the colon and rectum. The growths are called polyps. You can get between 100 and 1000 polyps in just 10 years. The genetic test that they run for FAP is a blood screening test for the adenomatous polyposis coli (APC) gene. The blood test is for checking for a mutation in the APC gene. If the results are positive, closely related family members should be tested too. You should also be tested if colon cancer is hereditary, or if you have a history of more than

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. If the APC gene is mutated you are more likely to develop these growths which lead to cancer in your lifetime. This disorder has an autosomal dominant inheritance pattern, which means if either parent has just one dominant mutated APC gene you have a 50% chance of inheriting it. Symptoms of FAP do not just include the growths in your colon. They can also include skin changes, osteomas or bone growths, and extra or missing teeth.

Hereditary breast and ovarian cancer syndrome (HBOC) and LS (also known as hereditary non-polyposis colorectal cancer (HNPCC) combined likely affect 1 in 250 individuals in the general population, therefore, suggests that primary care providers (PCP) actively cares for a number of these individuals and their family members (Metcalf, Tanner, Buchanan, 2010). Failure to identify and manage individuals with HBOC and LS can result in more harm and increase poor cancer prognosis (Metcalf, Tanner, Buchanan, 2010; Rosato et al., 2013). There are a number of guidelines from prominent organizations including the United States Preventive Services Task Force (USPSTF) and Evaluation of Genomic Applications in Practice and Prevention suggesting that identification of HBOC and LS patients can improve outcomes through enhanced screening and preventive measures (Metcalf, Tanner, Buchanan, 2010). Although not recognized as a universal agreement, the best approaches to high risk individuals with HBOC and Lynch syndrome is a primary care setting, until there is universal agreement with improved identification of LS risk measures (Metcalf, Tanner, Buchanan, 2010). Researchers are exploring recommendations to offer genetic testing for LS to all individuals with diagnosed CRC, with the intent of reducing morbidity and mortality in family members (Bellcross et al., 2011). Currently there are no significant efforts on a national level to facilitate widespread genetic screening to prevent LS adult onset conditions in family members of affected individuals using a public health model (Bellcross et al., 2011). The same concepts and processes used in newborn universal screening are being considered as a model for implementing universal LS screening on a population level (Bellcross et al., 2011). In recognizing universal LS

The signs and symptoms of colon cancer include blood in the stool, weight loss, change in movements in the bowel and fatigue. Most colon cancers are adenocarcinomas because they begin in the cells responsible for making and releasing mucus and other fluids. Colon cancer usually begins as a type of growth known as a polyp which forms in colon or rectum’s inner wall. Some polyps may develop to become cancer after some time. Diagnosing and removing polyps is used to prevent cancer. In the United Kingdom, colon cancer is 3rd most common type of cancer for women and men. However, deaths associated with the cancer have been decreasing after the use of colonoscopies as well as fecal occult blood tests which are used to check for the presence of blood in people’s

Maori aged 60-69 years were 1.5 times more likely to have an adenoma detected than Europeans of the same age (Ministry of Health, 2015). Maori were almost 1.5 times more likely to have an advanced adenoma detected than Europeans (Ministry of Health, 2015). Asians were over 1.5 times less likely to have an advanced adenoma detected than Europeans (Ministry of Health, 2015). There was a recommendation that Asians were less likely and Maori were more likely than Europeans to have neoplasia detected, but this was not statistically significant (Ministry of Health, 2015). Asians were less likely than Europeans to have either advanced adenoma or colorectal cancer detected (Ministry of Health, 2015). The Positive Predictive Values for adenoma and advanced adenoma was lower for females than males (Ministry of Health, 2015). The PPV for adenoma was about 1.5 times less for Asians

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, & Ganguly, 2014). Therefore, it is essential to have knowledge of the disease in advance in order to have sufficient medical preparation and family planning before the onset of the disease.

Even though it is unknown why cancer happens in some people and not in others, heredity seems to have an effect in some forms of cancer. Because of this, family history may be

CYP1A1*2A variant has an increased activity, might be responsible for increased risk of carcinogenesis( 56,57,58). Our case- control study showed association of CYP1A1*2A and AML statistically no significant. A study by Francesco D’alo et all showed GSTT1 homozygous deletions were more frequent in AML patients (29% vs 19%, OR = 1.7, 95% CI 1.1-2.7, p=0.02), but The frequency of CYP1A1*2A allele was not significant in AML patients than in controls (p= 0.06) (34).

The most common causes linked to desmoid tumors are genetics. Parents pass on the inherited gene called beta catenin to the offspring. Another form of this mutated genes causing this condition are associated with familial adenomatous polyposis is an inherited form of colon cancer.

Lynch syndrome, previously known as hereditary nonpolyposis colorectal cancer (HNPCC) is a parental inherited condition that exposes a person to the risks of cancers, but most commonly colon cancer1-9. It is a heterozygous autosomal dominant genetic condition, which means that if only one parent carries the gene for Lynch syndrome (LS), then a 50 percent chance of passing on the mutation will be passed to each child1-9. LS is limited to families with a known pathogenic germline mutation2. A germline mutation is when mutations occur in the germ line, which is a group of cells that contribute to the improvement of gametes2,3,10. To find out how individuals are to contract this disease, the family medical history must be taken into account. Early