Mayo Clinic Q and A: Lynch syndrome and genetic testing

DEAR MAYO CLINIC: I am considering undergoing genetic testing to see if I have the gene mutation that causes Lynch syndrome. Because of my family history, I already have regular colonoscopies even though I?m only 41. What would knowing I have the mutation change as far as how I?m monitored for colon cancer? ANSWER: Knowing [...]
Source: News from Mayo Clinic - Category: Databases & Libraries Source Type: news

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AbstractBackgroundWe previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.MethodsThe Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Onlypath_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Abstract Colorectal cancer (CRC) is one of the most common causes of cancer mortality in the world. The incidence is related to increases with age and western dietary habits. Early detection through screening by colonoscopy has been proven to effectively reduce disease-related mortality. Currently, it is generally accepted that most colorectal cancers originate from adenomas. This is known as the "adenoma-carcinoma sequence", and several studies have shown that early detection and removal of adenomas can effectively prevent the development of colorectal cancer. The other two pathways for CRC development ...
Source: Medicina (Kaunas) - Category: Universities & Medical Training Authors: Tags: Medicina (Kaunas) Source Type: research
ConclusionConcordance of opinion among GCs for the management of patients with negative genetic test results exists when FDRs are affected. However, when affected relatives are more distant, GCs disagreed on screening recommendations. These data suggest a need for guidelines for patients with a family history of cancer and a negative genetic test.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Case Summary: A 56-year-old man with a history of hypertension and hyperlipidemia was referred by gastroenterology for bleeding per rectum. Because of a family history of colon cancer, he had several prior colonoscopies, most recently 3 years ago, without evidence of pathology. His mother was diagnosed with colon cancer in her mid-40s. His current colonoscopy demonstrated a 2.4 × 1.5 cm cecal adenocarcinoma. Staging workup revealed no evidence of metastatic disease. Because of the patient’s family history, the specimen was further evaluated and found to have high microsatellite instabilit...
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Resident’s Corner Source Type: research
CONCLUSIONS: The age of onset of sessile serrated adenomas/polyps varies, but the pattern is consistent with increasing methylation in the mucosa. Early negative colonoscopies predict a low risk of methylator cancers. See Video Abstract at
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research
We report here a 16-year-old patient who presented initially with symptoms characteristic of appendicitis. Following a CT scan suggesting perforated appendicitis, the patient was treated with intravenous antibiotics with a scheduled interval appendectomy three months later. Pathology reports from the interval appendectomy showed that the specimen contained a well-to-moderately differentiated adenocarcinoma. The patient then underwent robot assisted right hemicolectomy as definitive management, which demonstrated that the tumor originated in the cecum with invasion into the submucosa and focally infiltrating the muscularis ...
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
A new study released by the National Cancer Institute shows colon and rectal cancers have increased dramatically and steadily in young and middle-age adults in the United States over the past four decades. Dr. Yixing Jiang, a Medical Oncologist at the University of Maryland Greenebaum Comprehensive Cancer Center, answers all the questions you’re now asking yourself about colon cancer. Q. What are the risk factors for colon cancer? A. The risks for developing colon cancer are: obesity; insulin resistance diabetes, red and processed meat; tobacco; alcohol; family history of colorectal cancer; certain hereditary syndrom...
Source: Life in a Medical Center - Category: Universities & Medical Training Authors: Tags: Cancer Health Tips colon cancer maryland research study treating colon cancer Source Type: blogs
A 43-year-old man presented to his primary care physician in January 2013 for a routine comprehensive physical evaluation. On initial presentation, he reported feeling well with no complaints. Review of systems was negative. The patient denied any symptoms of constitutional weight loss, fatigue, pelvic pain, urinary symptoms, hematuria, or change in sexual function. His past medical history was significant for cutaneous lipomas, diverticulosis, and colon polyps, including a tubulovillous adenoma and a tubular adenoma removed during colonoscopies in 2004 and 2012, respectively (Fig.  1).
Source: Urology - Category: Urology & Nephrology Authors: Tags: Grand Rounds Source Type: research
CONCLUSIONS: Rectal studding may be a sign of MYH-associated polyposis and raises questions about the biology of abnormal base excision repair.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contributions: Endoscopy Source Type: research
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Source: International Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Short Report Source Type: research
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