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The Genetic Risks of Colorectal Cancer

In the family, there is the possibility of colorectal cancer. The cancer that may rule out for the individuals from the pedigree chart is colorectal. Shaw and colleagues reported that colorectal cancer has a 5% chance of developing with average disease risk in a person (Shaw et al., 2018). Approximately 95% of all cases of colorectal cancer are thought to be sporadic, which means that the mutations in a person's DNA happen by chance after birth and cannot be passed on to future generations. Only about five percent of colorectal cancers are hereditary, and they emerge when mutations or abnormalities in the DNA of a family are passed down the generations. Colorectal cancer is often a mystery, as the etiology of the disease is often unknown.

Colorectal cancer is more common among the elderly. Though young people and teenagers are at risk for colorectal cancer, most cases occur in those over 50. Roos and colleagues reported that men are diagnosed with colon cancer on average at 68, while women are diagnosed on average at 72 (Roos et al., 2019). At 63, men and females are equally likely to be detected with rectal cancer. When it comes to the treatment of colorectal cancer, older people face unique challenges. Kastrinos and colleagues reported that the most recent numbers, the occurrence rate of colorectal cancer in those 55 as well as older has fallen by about 3.6 percent every year (Kastrinos et al., 2020). There was also a 2% annual increase in people under 55 who developed the disease. Increasing rates of rectal cancer are mostly to blame for this increase. Around 11% of all colorectal cancer diagnoses are in those under 50.

Individual III.i is 30 years old and have advanced metastatic colorectal cancer. Lynch Syndrome affects a 30-year-old man. Roos and colleagues reported that individuals with Lynch syndrome are more likely to have colorectal cancer (Roos et al., 2019). Individual I.i was discovered to have tens of thousands of tubular villous colorectal adenomas (60 years old). Approximately ten adenomas and one carcinoma were discovered in situ in the ascending colon of individual I.ii (70 years old). Roos and colleagues reported that these first-generation people have adenocarcinoma (Roos et al., 2019). Cancer is a kind of adenocarcinoma. It takes place in the glands that line your organs. Prostate cancer, breast cancer, stomach cancer, pancreatic cancer, lung cancer, and colon cancer are all common types of adenocarcinoma.

Individual III.i is a 30-year-old male with metastatic colorectal cancer at an advanced stage. Metastasis is how cancer cells migrate from the colon to additional organs. Roos and colleagues reported that this is likewise known as stage IV colon cancer or advanced colon cancer (Roos et al., 2019). Treatment choices will be determined by various aspects, comprising the severity of the disease and its progression to other organs. According to Roos and colleagues family history, a maternal first cousin once removed (II.i) also suffered from colon cancer as a young man (Roos et al., 2019). The term "bowel cancer" refers to a form of cancer that develops in the large intestine (colon) and spreads to the backchannel (rectum). Another term for it is colorectal cancer. Individual II.i have bowel cancer. The intestine is divided into two sections: the small and large intestine. The colon, rectum, and bowel aperture are all considered components of the large intestine (anus). Individual I.i. was found to have thousands of tubulovillous colorectal adenomas (60 years old). Individual II had three tubulovillous adenomas.iii (50 years old). A tubulovillous adenoma is a noncancerous growth of the colon. Roos and colleagues reported that it develops from the cells that line the colon's interior surface (Roos et al., 2019). Adenomas can develop along the length of the colon, from the cecum to the rectum. Tubulovillous adenomas account for 10%–15% of all polyps, with 20%–25% of them harboring malignancy.

Lynch Syndrome: A Hereditary Risk Factor

Villous adenomas are premalignant benign tumors. Roos and colleagues reported that biliary cancers may undergo the adenoma-to-carcinoma transformation (Roos et al., 2019). Given that adenomas in multiple sections of the GI tract share similar histologic and biologic characteristics, the rectum, gallbladder, ampulla, as well as biliary duct may be engaged in an adenoma-to-carcinoma carcinogenic process. As a result, complete excision of the lesion prevents cancer from developing. Roos and colleagues reported that using radiologic imaging, it is hard to distinguish biliary adenomas from other malignant tumors (Roos et al., 2019). Before surgery, it is difficult to predict the presence of malignant foci. On the other side, an expert biliary endoscopist may discover malignancy.

Individual III.i is 30 years old and have advanced metastatic colorectal cancer. Lynch Syndrome affects a 30-year-old man. Hereditary conditions raise the chance of colon cancer, endometrial cancer, and various other malignancies. Individual I.i was discovered to have tens of thousands of tubular villous colorectal adenomas (60 years old). Approximately ten adenomas and one carcinoma were discovered in situ in the ascending colon of individual I.ii (70 years old). Adenocarcinoma has struck two members of the first generation.

The disease may run in the family as long as first-degree relatives (parents, brothers, sisters, and children) or any additional family members have colorectal cancer, especially when a relative is diagnosed with colorectal cancer before 60 just the same way it has run through the individuals in the pedigree. Roos and colleagues reported that a family history of colorectal cancer raises about two-thirds of a person's risk of developing the disease (Roos et al., 2019). More relatives who have had colon cancer or first-degree relatives identified at an earlier age increase the risk. Khan and colleagues reported that it is essential to tell your family members about your family's history of colorectal cancer (Khan et al., 2020). Even though polyps aren't cancer, adenomas can lead to colorectal cancer if left untreated. Up to 5% of all colon cancers develop in people with well-known genetic diseases. Each one has been related to an increased risk for colon cancer. Up to one-third of rectal cancers have a family chance, most likely inherited. Some less penetrating but more prevalent vulnerability genes have been recognized at this stage of inheritance. Archambault and colleagues reported that an accurate risk assessment and screening techniques may now be achieved because of the identification of predisposing genes (Archambault et al., 2020).

Individual III.i is 30 years old and have advanced metastatic colorectal cancer. Lynch Syndrome affects a 30-year-old man. Hereditary conditions raise the chance of colon cancer, endometrial cancer, and various other malignancies. Individual I.i was discovered to have tens of thousands of tubular villous colorectal adenomas (60 years old). Approximately ten adenomas and one carcinoma were discovered in situ in the ascending colon of individual I.ii (70 years old). Adenocarcinoma has struck two members of the first generation. The phenotypic information in this family that may help me come to a diagnosis is their gene mutation. Overweight and obesity will be used to help diagnose since it causes colorectal cancer. The other thing to be checked is gene mutation. The vast majority of cancer-causing gene mutations occur due to a hereditary process. They don't pass on from one generation to the next for the most part. Cenin and colleagues reported that these DNA mutations only harm cells that have been generated from the original mutant cell (Cenin et al., 2020). The DNA mutations that cause cancer in the majority of cases of colorectal cancer are acquired, not inherited. Several risk factors may influence these acquired mutations, most of which are currently unknown. Zheng and colleagues reported that no single genetic pathway appears to be responsible for all occurrences of colorectal cancer (Zheng et al., 2020). The APC gene is the first to be altered; colorectal cells develop more quickly because there is no "brake" on cell proliferation. In this case, the cells could grow and spread out of control due to changes in other genes. It's almost certain that there are still unidentified genes at play.

Before genetic testing Consult a genetic therapist if you have a family history of colorectal cancer. Genetic testing is the simply method to conclude if you have a genetic mutation. Weigl and colleagues reported that genetic counselors are uniquely trained to communicate the benefits and hazards of genetic testing to their clients (Weigl et al., 2018). Each human cell contains a unique DNA mutation that can be passed down from generation to generation. Hereditary mutations are the scientific term for this. Inherited gene mutations do not cause most cases of colorectal cancer. DNA mutations and the consequences for cell proliferation that result from them have been studied extensively in recent years. As a cancer-suppressor gene, the APC gene assists to regulate cell development. Weigl and colleagues reported that in those who inherit mutations in the APC gene, the "brake" on cell development is turned off, causing hundreds of polyps forming in the colon (Weigl et al., 2018). Eventually, one or more of these polyps will become cancerous. Mutations in genes that generally aid in the repair of damaged DNA in cells produce Lynch syndrome. MSH2, MLH1, PMS2, MSH6, or EPCAM are DNA repair genes whose mutations could result in untreated DNA errors. Weigl and colleagues reported that some of these flaws can affect growth-controlling genes, leading to cancer formation in some cases (Weigl et al., 2018). Mutations in STK11, a tumor suppressor gene, are the primary cause of Peutz-Jeghers syndrome (LKB1). It is essential for the cell to "proofread" or verify the DNA and fix errors when it divides, and mutations in the MUTYH gene cause MUTYH-associated polyposis (MAP). These inherited illnesses can be diagnosed with the help of genetic tests that reveal gene mutations. Weigl and colleagues reported that the doctor may recommend genetic counseling and testing if the family history of colorectal polyps or other symptoms is associated with these diseases (Weigl et al., 2018). Patients should seek the advice of a cancer genetics practitioner before conducting any genetic testing.

Lynch syndrome is more prevalent in pedigree members. Weigl and colleagues reported that Lynch syndrome is a hereditary disorder that raises the threat of emerging a variety of cancers, including colon and rectal tumors, stomach, small intestine, liver, bile ducts, upper urinary system, brain, skin, and prostate cancer (Weigl et al., 2018). Although it was once believed that Weigl and colleagues reported that Lynch syndrome did not entail noncancerous (benign) growths (polyps) in the colon, polyps in the colon have been observed in certain patients with the disorder (Weigl et al., 2018). Lynch syndrome is inherited autosomal dominantly, which means that one inherited copy of the defective gene in each cell is sufficient to increase a person's cancer risk. It's critical to remember that people inherit a higher chance of developing cancer, not the disease itself. None of the individuals who inherit these gene mutations will develop cancer.

Colorectal cancer (CRC) develops over time due to the accumulation of somatic mutations in cells. Gargallo and colleagues reported that the most frequently mutated genes, including TP53, APC, and KRAS, can aid cancer cells in survival and proliferation (Gargallo et al., 2019). Gargallo and colleagues reported that while certain CRC mutations' molecular alterations and landscape are well documented, a somatic mutation signature associated with genomic regions and epigenetic markers remain unknown (Gargallo et al., 2019). CTCF binding sites are significantly overexpressed in CRC and colon cancer cell lines due to somatic mutations.

Colon cancer is one of the most common hereditary cancer syndromes. Weigl and colleagues reported that MSH2 and MSH6, which are located on chromosome 2, as well as MLH1, which is located on chromosome 3, are among the genes associated with colorectal cancer (Weigl et al., 2018). By and large, these genes' protein products contribute to the repair of DNA replication mistakes.

The most regularly utilized screening tests are as follows: Tests to detect if there is any blood in the stool are known as fecal immunochemical tests (FIT). Collecting feces in tubes makes this test straightforward to do at home. Gargallo and colleagues reported that every sample of blood in the feces will be tested at a laboratory (Gargallo et al., 2019). GFOBT will be used on Individual II.i. GFOBT: a test that utilizes feces to draw blood from the patient's intestines. The GFOBT, like the FIT test, is designed to detect blood in the feces. A stool sample is collected from the subject's residence and sent to a laboratory for analysis. This test looks for secreted blood via a chemical reaction. Jenkins and colleagues reported that the GFOBT, on the other hand, is incapable to decide where in the digestive tract the blood originates (Jenkins et al., 2019). The precise location of the blood will necessitate more testing.

Colonoscopy will be used on Individual II.i who has bowel cancer. Colonoscopy is the inspection of the whole colon with a colonoscopy instrument. This is a little longer than a sigmoid speculum. Wong and colleagues reported that because a colonoscopy requires the intestines to be empty, it is best to consume a particular diet a few days before the procedure and take medicine to empty the intestines (Wong et al., 2018). The image is relayed to the monitor by the camera, allowing the doctor to examine for aberrant spots that could be the result of rectal or intestine cancer. A biopsy, similar to sigmoidoscopy, may be performed during the examination. In some circumstances, passing a colonoscopy through the entire intestine may be impossible. CT colonography may be required in this scenario. The tissue to be tested is the rectum.

People III.i with Lynch Syndrome usually start with a colonoscopy screening. Individuals may be predisposed to developing more difficult-to-detect colon polyps. As a result, new colonoscopy techniques may be suggested. High-resolution colonoscopy yields a more detailed image, whereas narrow-band colonoscopy employs a specific light to provide a sharper view of the colon. The colon is the tissue that will be tested. Individual I.i and Individual I.ii will be tested by biopsy. A biopsy is a small sample of tissue obtained from an organ suspected of having malignancy. This tissue sample is delivered to a pathologist, who uses a microscope to study the cancer cells. A biopsy can determine if the cancer is contained in a single organ, has spread, or has increased. The tissue to be tested is the rectum.

Conclusion

The occurrence of family history can be lower than the widely accepted number of 10% founded on self-reported information. Wong and colleagues reported that research that uses population samples instead of screening studies to decrease bias induced by the selective patients and families volunteering with good family histories can be preferred (Wong et al., 2018). Second- and third-degree relatives were never linked with a greater than a twofold increase in the chance of developing colorectal cancer, even though they were more numerous. This illustrates that it is possible and sufficient to know the cancer history in all first-degree relatives for clinical purposes. Samadder and colleagues reported that the probability of FDR CRC diagnosis at a younger age was consistently higher, but the little data available made it difficult to calculate the additional risk (Samadder et al., 2019). Family history may be underreported or undervalued as a contributing factor to the more significant burden of CRC if these findings are correct. Women are more possibly than men to report having a family history of the disease, consistent with prior studies. Colorectal cancer screenings begin in earnest for the average-risk population of 45-year-olds. According to some doctors, people at average risk should be screened at least once a year, starting at 50. Screening for colorectal polyps and cancer and inflammatory bowel disease should begin before 45 if there is a personal or family history of these conditions. As both men and women are at threat of colorectal polyps and cancer, they must be screened.

The Importance of Family History in Colorectal Cancer Prevention

References

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Cenin, D. R., Naber, S. K., de Weerdt, A. C., Jenkins, M. A., Preen, D. B., Ee, H. C., ... & Lansdorp-Vogelaar, I. (2020). Cost-effectiveness of personalized screening for colorectal cancer based on polygenic risk and family history. Cancer Epidemiology and Prevention Biomarkers, 29(1), 10-21.

Gargallo, C. J., Lanas, Á., Carrera?Lasfuentes, P., Ferrandez, Á., Quintero, E., Carrillo, M., ... & García?Gonzalez, M. A. (2019). Genetic susceptibility in the development of colorectal adenomas according to family history of colorectal cancer. International journal of cancer, 144(3), 489-502.

Gausman, V., Dornblaser, D., Anand, S., Hayes, R. B., O'Connell, K., Du, M., & Liang, P. S. (2020). Risk factors associated with early-onset colorectal cancer. Clinical Gastroenterology and Hepatology, 18(12), 2752-2759.

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Jenkins, M. A., Win, A. K., Dowty, J. G., MacInnis, R. J., Makalic, E., Schmidt, D. F., ... & Hopper, J. L. (2019). Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history. Familial cancer, 18(4), 389-397.

Kastrinos, F., Samadder, N. J., & Burt, R. W. (2020). Use of family history and genetic testing to determine risk of colorectal cancer. Gastroenterology, 158(2), 389-403.

Khan, U. A., Fallah, M., Tian, Y., Sundquist, K., Sundquist, J., Brenner, H., & Kharazmi, E. (2020). Personal history of diabetes as important as family history of colorectal cancer for risk of colorectal cancer: a nationwide cohort study. Official journal of the American College of Gastroenterology| ACG, 115(7), 1103-1109.

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