Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

ConclusionTumor mutational signatures 6 and 15 and somatic mutation burden were effective in differentiating Lynch ‐related from non‐Lynch sebaceous lesions.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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ConclusionWe have shown that other genes associated with the process of DNA MMR have a high probability of being associated with LLS families. These findings indicate that the spectrum of genes that should be tested when considering an entity like Lynch ‐like syndrome should be expanded so that a more inclusive definition of this entity can be developed.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Lynch Syndrome (LS) entails a defective DNA mismatch repair system, which is the post-replicative proofreading and editing system, ensuring our genome's integrity. LS predisposes to several cancers, most commonly colorectal and endometrial cancers. LS occurs in approximately 1 in 250 –1,000 people.LS is associated with urological malignancies with upper tract urothelial carcinoma the most common, although still clinically underestimated. Other urologic malignancies possibly associated with LS include bladder, prostate, testis, and renal cell carcinoma.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
Abstract Hereditary non-polyposis colorectal cancer (HNPCC) also known as Lynch Syndrome (LS), is a hereditary form of colorectal cancer (CRC). LSis caused by mutations in the mismatch repair (MMR) genes, mostly in MLH1, MSH2, MSH6 and PMS2. Identification of these gene mutations is essential to diagnose CRC, especially at a young age to increase the survival rate. Using open target platform, we have performed genetic association studies to analyze the different genes involved in the LS and to obtain target for disease evidence. We have also analyzed upstream regulators as target molecules in the data sets. We dis...
Source: Bioinformation - Category: Bioinformatics Authors: Tags: Bioinformation Source Type: research
AbstractMuir –Torre syndrome (MTS) is clinically characterized by the occurrence of skin, usually sebaceous, and visceral tumors in the same individual. The most common underlying mechanism is a constitutional defect of the mismatch repair (MMR) genes that cause Lynch syndrome (LS). Herewithin we report on a 7 6 years-old male patient heterozygous for a pathogenicMSH2 missense substitution who presented with a striking cutaneous phenotype in the absence of typical LS visceral tumors. The patient developed 20 skin tumors, including sebaceous adenomas/carcinomas and keratoacanthomas. Two skin tumors showed immunoh...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractLynch syndrome is a cancer-predisposing syndrome inherited in an autosomal-dominant manner, wherein colon cancer and endometrial cancer develop frequently in the family, it results from a loss-of-function mutation in one of four different genes (MLH1,MSH2,MSH6, andPMS2) encoding mismatch repair proteins. Being located immediately upstream of theMSH2 gene,EPCAM abnormalities can affectMSH2 and cause Lynch syndrome. Mismatch repair proteins are involved in repairing of incorrect pairing (point mutations and deletion/insertion of simple repetitive sequences, so-called microsatellites) that can arise during DNA replica...
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research
Colorectal cancer (CRC) has many subtypes with different prognoses and response to treatment. Patients must be characterized to access the most appropriate treatment and improve outcomes. An increasing number of biomarkers are required for characterization but are not in routine use. We investigated whether CRC can be stratified routinely within a small district general hospital to inform clinical decision making at local multidisciplinary team meeting/tumor board level. We evaluated mismatch repair (MMR) and EGFR signaling pathways using predominantly in-house immunohistochemical (IHC) tests (MSH2, MSH6, MLH1, PMS2, BRAF-...
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Online Articles: Research Article Source Type: research
Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic ...
Source: Journal of Translational Medicine - Category: Research Authors: Tags: Research Source Type: research
Conclusion: In this retrospective study, 0.5% (6/1179) of lung cancer patients were found to harbor a germline mutation on MSH2, MSH6 or PMS2. However, two of these patients displayed intact MMR protein expression, MSS and TMB-L. Combined with the baseline characteristics of 6 patients, it seems that lung cancers may not be related to Lynch syndrome. Relationships between the development of lung cancers and Lynch syndrome still requires further large–scale investigations. Nonetheless paired tumor–normal next-generation sequencing can identify germline mutations including that related with Lynch syndrome in canc...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionCurettage for miscarriage or undesired pregnancy is not exempt from complications, such as hemorrhage, simple perforation, and infection. Intrauterine fallopian tube incarceration is uncommon but can affect fertility. This diagnosis is important to avoid destruction of the fimbriae and necrosis of the tube and also to reduce the risk of ectopic pregnancy.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins —this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
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