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Genetic Testing For Colon Cancer
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Germline Cancer Susceptibility Gene Testing In Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study
Photo: Pathogenic mutations were detected with a multigen panel among 1,058 people with colorectal cancer (Photo provided by the American Society of Clinical Oncology).
Extra work on genetic risk assessment has been suggested, both to help treat people with colorectal cancer and to prevent the development of vulnerable family members.
Inherited genes play an important role in the risk of internal cancer (CRC), but the frequency of genetic mutations in patients with undiagnosed CRC of risk factors such as early age, individual or family history of cancer or polyps, tumor. . What is not known is the instability of microsatellites (MSI), the lack of differential regulation (MMR).
A large team of scientists working with the Dana-Farber Cancer Institute welcomed 1,500 participants who received CRC in a clinical setting with no initial choice in screening, family / family history, or MSI / MMR results. All participants were tested mutation in 25 genes associated with an increased risk of genetic cancer. Each gene is said to be more or less invasive, according to a predictor of life-threatening cancer risk and pathogenic germline mutations in that gene.
Colon Cancer Is Hereditary?
Frozen germline DNA was extracted from the whole blood of the participant, the polymerase chain reaction elevated by a selective library of amplifiers, and sequenced to detect major sequence changes and rearranged between twenty-five cancers, following patterns developed in previous studies. The study focused on a large portion of genetic research, using a commercial test pan from Myriad Genetic Laboratories to identify mutations in cancer-related genes.
The researchers found that one hundred and fifteen (9.9%) of 1,058 participants had one or more pathogenic mutations, thirty-three (3.1%) with Lynch Syndrome (LS) and twenty-eight (96.6%) of the 29 available LS CRCs had MI / MMR. abnormal results. . Among the 1,058 participants, seventy-seven (7.0%) underwent changes in non-LS genes, including twenty-three (2.2%) genetically modified organisms, of which fifteen had no clinical history showing mutations under them. Thirty-eight (3.6%) participants had intermediate-entry CRC risk gene mutations. When diagnosed CRC, or test age, family history of the CRC, or individual history of other cancers strongly predicted the presence of pathogenic mutations in the non-LS gene.
Matthew B. Yurgelun, MD, lead author of the study, said: “We have known for a long time that genetics often play a role in human risk of colon cancer. ten, it is much higher than traditional thinking.
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Guidelines For The Management Of Hereditary Colorectal Cancer From The British Society Of Gastroenterology (bsg)/association Of Coloproctology Of Great Britain And Ireland (acpgbi)/united Kingdom Cancer Genetics Group (ukcgg)
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Use Of Family History And Genetic Testing To Determine Risk Of Colorectal Cancer
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Lynch Syndrome Detection
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Broader Genetic Testing Recommended For Colorectal Cancer Risk
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Risks And Signs Of Colorectal Cancer [Infographic], Colon Cancer, Is It Hereditary?, Huntsman Cancer Institute—routine Testing Strategy For Lynch Syndrome…., Colon Cancer And Genetic Testing: Questions Answered, How Colorectal And Colon Cancer Differ, IJMS, Lynch Syndrome–Associated Colorectal Cancer, Genetics Of Colorectal Cancer (PDQ®)–Health Professional Version, Stages Of Colon Cancer