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Identification of Lynch Syndrome
Gastrointestinal Endoscopy Clinics of North America, 2022Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic germline variants (PGV) in any of the 4 DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, or deletions in EPCAM. LS leads to an increased risk of intestinal and extraintestinal cancers, of which colorectal and endometrial cancers are the most common.
Jennifer K, Maratt, Elena, Stoffel
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Current Opinion in Oncology, 1993
The Lynch syndromes, also referred to as hereditary nonpolyposis colorectal cancer, are reviewed, with particular attention given to their natural history, diagnosis, surveillance, and management. Lynch syndrome I is characterized by an autosomal dominantly inherited predisposition to early onset colorectal cancer, with proximal predominance and an ...
H T, Lynch, J F, Lynch
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The Lynch syndromes, also referred to as hereditary nonpolyposis colorectal cancer, are reviewed, with particular attention given to their natural history, diagnosis, surveillance, and management. Lynch syndrome I is characterized by an autosomal dominantly inherited predisposition to early onset colorectal cancer, with proximal predominance and an ...
H T, Lynch, J F, Lynch
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Gastroenterology, 2013
Question: A 35-year-old man with Lynch syndrome presented for evaluation of progressive solid food dysphagia of 2 months’ duration. Lynch syndrome was confirmed by MSH2 mutation testing and family history of young-onset colon cancer. Annual screening colonoscopies since age 25 were normal.
Seth, Sweetser +2 more
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Question: A 35-year-old man with Lynch syndrome presented for evaluation of progressive solid food dysphagia of 2 months’ duration. Lynch syndrome was confirmed by MSH2 mutation testing and family history of young-onset colon cancer. Annual screening colonoscopies since age 25 were normal.
Seth, Sweetser +2 more
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Die Pathologie
Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance).
Verena, Steinke-Lange +1 more
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Patients with Lynch syndrome, one of the most common hereditary tumor predisposition syndromes, harbor an increased risk for a broad spectrum of especially gastrointestinal and gynecological tumors. Causative for the syndrome are variants in DNA mismatch repair genes, which are passed on to the offspring at a 50% chance (autosomal dominant inheritance).
Verena, Steinke-Lange +1 more
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Chemoprevention in Lynch syndrome
Familial Cancer, 2013CAPP1 tested aspirin 600 mg/day and/or resistant starch 30 g/day in 200 adolescent FAP carriers. Aspirin treatment resulted in a non-significant reduction in polyp number and a significant reduction in polyp size among patients treated with aspirin for more than 1 year. CAPP2 RCT used the same interventions in 937 Lynch syndrome patients, the first RCT
Burn J, Mathers JC, Bishop DT
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Surveillance in Lynch Syndrome
Familial Cancer, 2005The major aim of surveillance in Lynch syndrome is to diagnose malignant or premalignant lesions at the asymptomatic stage by regular checkups, particularly in the large bowel. Therefore, screening for colorectal adenomas and carcinomas by regular colonoscopies is the main topic of the present review.
Jukka-Pekka, Mecklin +1 more
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Journal of Pediatric Gastroenterology and Nutrition, 2014
ABSTRACTColorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in
Sherry C, Huang +2 more
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ABSTRACTColorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in
Sherry C, Huang +2 more
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Familial Cancer, 2005
Since the discovery of the major human genes with DNA mismatch repair (MMR) function in 1993-1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly linked to susceptibility of hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
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Since the discovery of the major human genes with DNA mismatch repair (MMR) function in 1993-1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly linked to susceptibility of hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome.
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Lynch syndrome: the patients perspective
Familial Cancer, 2013People with Lynch syndrome have a high lifetime risk for the development of colorectal, endometrial and several other types of cancer. Lynch syndrome is caused by germline mutations in genes encoding DNA mismatch repair proteins. In this review, issues that concern Lynch patients are highlighted from the patients' perspective. Both authors are affected
Seppen, Jurgen, Bruzzone, Linda
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Screening for the Lynch Syndrome
New England Journal of Medicine, 2005to the editor: Hampel and colleagues (May 5 issue) 1 suggest that a universal screening program for the detection of microsatellite instability in patients with colorectal cancer is feasible and probably desirable. However, it will not be inexpensive.
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