Increasing the age limit for Lynch syndrome genetic testing may save lives

(European Society of Human Genetics) Raising the age limit for routine genetic testing in colorectal cancer could identify more cases of families affected by Lynch syndrome, a condition that accounts for around 5 percent of all colon cancers.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news

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CONCLUSIONS: Our hereditary colorectal cancer registry serves a large geographic area, with the largest group of referrals coming from gastroenterologists. Performing this analysis with geographic information systems technology mapping allowed us to identify clustering of patients and providers throughout the region as well as gaps. This information will help to target outreach and distribution of educational materials for providers and their patients to increase registry enrollment. See Video Abstract at http://links.lww.com/DCR/A950.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contribution: Colorectal Cancer Source Type: research
Lynch syndrome is a genetic disorder characterized by a high risk of developing colorectal cancer. Accurate pre-surgical information about the presence of Lynch syndrome can allow the surgeon to determine the extent of surgical resection to reduce risk of metachronous cancers. Whether the yield of screening for Lynch syndrome in patients with newly diagnosed colon cancers by pre-surgical biopsies and surgical specimens is comparable remains uncertain.
Source: Gastrointestinal Endoscopy - Category: Gastroenterology Authors: Tags: Tuesday abstract Source Type: research
We report a case of a 62 year old man, diagnosed with MSH2-Lynch syndrome, who underwent successful eFTR treatment of an early (pT1) colon cancer located in the ascending colon, with no signs of recurrence 12 months after treatment. We discuss the pros and cons of endoscopic re section of early colorectal carcinoma in Lynch syndrome patients.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
In this study, several biopsies from a patient-derived primary renal-cell carcinoma were analyzed by whole-exome sequencing and aligned to healthy tissue. Next to several shared mutations between different subclones, ca. 23% of the mutations were only found in specific regions of the tumor. Strikingly, a single biopsy of that same tumor only covered around 55% of the total mutational diversity, underlining the need for multi-region sampling. Tracing the order of mutations in different subclones revealed that they develop in a branching fashion from the primary tumor clone, harboring the driver mutation, rather than in a li...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionsWe conclude that TAC as the primary surgical option for LS patients diagnosed with Stage I-III colon cancer is cost-effective. Further cost-effectiveness study is recommended to include extra-colonic malignancies in LS patients.
Source: The American Journal of Surgery - Category: Surgery Source Type: research
AbstractBackground.The incidence of colorectal cancer (CRC) in younger patients is rising, mostly due to tumors in the descending colon and rectum. Therefore, we aimed to explore the molecular differences of left‐sided CRC between younger (≤45 years) and older patients (≥65).Subjects, Materials, and Methods.In total, 1,126 CRC tumor samples from the splenic flexure to (and including) the rectum were examined by next‐generation sequencing (NGS), immunohistochemistry, and in situ hybridization. Microsatellite instability (MSI) and tumor mutational burden (TMB) were assessed by NGS.Results.Younger patients (n&thinsp...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Gastrointestinal Cancer 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
Arti S Pandey, Sudip ShresthaIndian Journal of Cancer 2018 55(4):410-412 A novel mutation in the MLH1 gene likely to be pathogenic for Lynch syndrome was discovered in a proband with a family history of colon cancer. Immunohistochemistry showed negative expression of PMS2 and MLH1 in the resected tumor sample. The mutation lies at the highly conserved C-terminus of the MLH1 protein, the region through which it dimerizes with PMS2 to carry out its mismatch repair function.
Source: Indian Journal of Cancer - Category: Cancer & Oncology Authors: Source Type: research
Introduction: Lynch syndrome or hereditary non-polyposis colon cancer (HNPCC) is inherited disorder in DNA mismatch repair genes which lead to microsatellite instability and increased risk of developing such cancers as colorectal, gastric, endometrial and others in relatively young adults under 50 years of age. Since genes who account for this syndrome have been identified and are transferred to next generations, many countries have launched a screening programme for selected patient groups to carry out prevention strategies.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Basic Science 5 – Oncology Source Type: research
O, Duval A Abstract Microsatellite instability (MSI), which is caused by deficiency of the DNA mismatch repair (MMR) system, is the molecular abnormality observed in tumors associated with Lynch syndrome. Lynch syndrome represents one of the most frequent conditions of cancer predisposition in human, thus requiring specific care and genetic counseling. Moreover, research has recently focused increasingly on MMR deficiency due to its positive predictive value for the efficacy of immune checkpoints inhibitors (ICKi) in metastatic tumors, regardless of their primary origin. MSI has also been demonstrated to constitu...
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Tags: Bull Cancer Source Type: research
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