Lynch syndrome
Evidence of response to pembrolizumab in a patient with Lynch syndrome-related metastatic colon cancer
... Abstract: Patients with Lynch Syndrome (LS) are at high risk of developing colorectal cancer at an early age. Germline mutations in DNA mismatch repair genes and microsatellite instability are clear ...
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Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
... The incidence of EPCAM deletions appeared to vary be- tween populations and was found to represent at least 1-3% of the explained Lynch syndrome families. Detailed analysis of the EPCAM deletions revealed ...
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Total colectomy for multiple metachronous colon cancers in a patient with Lynch syndrome
... Lynch syndrome (LS) is a disorder caused by mismatch repair gene mutations, which have been recognized to be associated with an increased frequency of colorectal and extracolorectal ...
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Frequent mismatch-repair defects link prostate cancer to Lynch syndrome
... Methods: We used the population-based Danish HNPCC-register to identify all prostate cancers that developed in mutation carriers and in their first-degree relatives from 288 Lynch syndrome families. The ...
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HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review
... (Lynch syndrome) is the most common form of hereditary colorectal cancer (CRC), wherein it accounts for between 2-7 percent of the total CRC ...the syndrome, namely carcinoma of the endometrium, ...
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Single-center study of Lynch syndrome screening in colorectal polyps
... Background: Lynch syndrome is the most common hereditary colorectal cancer syndrome, and adenoma is one of the important premalignant lesions to colorectal cancer in Lynch ...of Lynch ...
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The prevalence of Lynch syndrome in women with endometrial cancer: a systematic review protocol
... for Lynch syndrome ...for Lynch syndrome, healthcare leaders need an accurate es- timate of the true prevalence of Lynch syndrome in women with endometrial ...for Lynch ...
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Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
... Abstract: Background: Lynch syndrome, the most frequent form of hereditary colorectal cancer and involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 ...
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N LyST: a simple and rapid screening test for Lynch Syndrome
... Lynch Syndrome (LS) arises as a consequence of germline mutation in one of four DNA mismatch repair (MMR) genes (i.e. MLH1, PMS2, MSH2, MSH6) (7, 8). Loss of any of the proteins results in loss of MMR ...
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Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
... The mismatch repair (MMR) mechanism is ubiquitous in nature as a means of repairing DNA damage [12, 13], and pathogenic variants in four genes: MLH1, MSH2, MSH6 and PMS2 were identified in HNPCC [14 – 17]. When cells ...
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Lynch syndrome related endometrial cancer: clinical significance beyond the endometrium
... Lynch syndrome (LS), an autosomal dominant inherited cancer susceptibility syndrome, also known as hereditary non-polyposis colon cancer (HNPCC), is caused by a germline mutation in one of several ...
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Early-onset colorectal cancer patients without family history are “at very low risk” for lynch syndrome
... In our series, we observed that the principal clinical fea- tures consistent with LS (right-sided CRC, multiple pri- mary, extra-colonic, synchronous or metachronous cancer) were significantly less represented in the ...
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Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers
... Lynch syndrome (LS), or hereditary nonpolyposis color- ectal cancer (HNPCC) syndrome, is genetically hetero- geneous autosomal dominant disease, caused by mutations in one of at least four mismatch ...
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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
... evident in the MSH2 carrier group. This is an interesting finding that needs corroboration in other studies. Of note, our diagnosis includes all malignant tumours – including sebaceous carcinoma, but not sebaceous ...
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Prevalence of small-bowel neoplasia in Lynch syndrome assessed by video capsule endoscopy
... Objective The aim was to determine the prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome (LS) by video capsule endoscopy (VCE).. Design After obtaining inf[r] ...
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Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients
... from six Lynch syndrome patients. Splice site mutations within or near these exons affected splice donor or ac- ceptor sites (Table 1). NOMe-seq and single molecule sequencing allowed us to distinguish ...
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Case Report First reported case of a squamous cell carcinoma arising in the duodenum in a patient with Lynch syndrome
... The largest dedicated series of small bowel cancers in Lynch syndrome was published by Park et al in 2006 [12]. This was a question- Figure 4. The patient’s first cancer was diagnosed at the age of 42 years ...
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Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
... A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava ...(Lynch syndrome) and microsatellite ...
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Patients educating health care providers on Lynch syndrome
... Objective: Lynch syndrome (LS) patients are at an elevated risk for early-onset cancers, including endometrial and colorectal (CRC). Prior research has shown a deficit in provider knowledge of LS, which may ...
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Some aspects of molecular diagnostics in Lynch syndrome
... This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 ...
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