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High amount of fertility reducing tumors and procedures, but no evidence for premature ovarian failure in female Lynch syndrome patients
AbstractLynch syndrome (LS; HNPCC) patients carry heterozygous pathogenic germline variants in mismatch repair (MMR) genes, which have also been shown to play an important role in meiosis. Therefore, it was hypothesized, that LS might be associated with a higher risk for premature ovarian failure (POF) or earlier menopause. Data on medical gynaecological history, cancer diagnoses and therapy were collected from 167 female LS patients and compared to a population-based control cohort. There was no difference between the age of menopause in patients compared to controls and no evidence for a higher risk of POF in LS patients...
Source: Familial Cancer - January 27, 2024 Category: Cancer & Oncology Source Type: research

104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS
A 23-month-old male with known T-ALL had G-banding finding of monosomy 7 in 13 (59%) of the 22 metaphases analyzed from the bone marrow (BM). This, together with pathologic findings, confirmed the diagnosis of Juvenile myelomonocytic leukemia (infantile monosomy 7 syndrome).BM studies of microsatellites statues and tumor mutational burden showed no findings of therapy or clinical trial options. BM NGS identified gene alterations, including 1) ASXL1-G646fs*12 (NM_015338; 1934_1935insG), with uncertain significance in treatment; and 2) NOTCH1-Q2459fs*18(NM_017617; 73775delC); mutation of the gene commonly seen in T-ALL with ...
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Jie Xu, Melissa Stalling, Mark Steele, Daniel Pettee, Catherine Brownstein, Sarah Ossler, Carrie Costin Source Type: research

A Novel Mutation of < em > MSH2 < /em > Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies
J Clin Med. 2023 Aug 24;12(17):5502. doi: 10.3390/jcm12175502.ABSTRACTLynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer (HNPCC), accounts for 2-3% of all colorectal cancers. This autosomal dominant disorder is associated with a predisposition to endometrial, stomach, small bowel, pancreatic, biliary tract, ovary, urinary tract, brain, and skin tumors. Lynch syndrome is caused by the mutation of the MLH1, MSH2 (EPCAM), MSH6, and PMS2 genes. In this article, a case study of a 70-year-old female patient with Lynch syndrome is presented. Over a span of 30 years, the patient underwent multiple surgica...
Source: Clinical Colorectal Cancer - September 9, 2023 Category: Cancer & Oncology Authors: Ugne Silinskaite Edita Gavelien ė Rokas Stulpinas Ramunas Janavicius Tomas Poskus Source Type: research

Cancers, Vol. 15, Pages 3930: Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice
ndro Tagliaferri Lynch syndrome (LS), also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is an autosomal dominant cancer syndrome which causes about 2&ndash;3% of cases of colorectal carcinoma. The development of LS is due to the genetic and epigenetic inactivation of genes involved in the DNA mismatch repair (MMR) system, causing an epiphenomenon known as microsatellite instability (MSI). Despite the fact that the genetics of the vast majority of MSI-positive (MSI+) cancers can be explained, the etiology of this specific subset is still poorly understood. As a possible new mechanism, it has been...
Source: Cancers - August 2, 2023 Category: Cancer & Oncology Authors: Serena Ascrizzi Grazia Maria Arillotta Katia Grillone Giulio Carid à Stefania Signorelli Asad Ali Caterina Romeo Pierfrancesco Tassone Pierosandro Tagliaferri Tags: Review Source Type: research

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
Conclusion Our data show that CAPLRseq is an automatable and adaptable workflow for effective transcriptome-based identification of disease variants in a clinical diagnostic setting. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - July 21, 2023 Category: Genetics & Stem Cells Authors: Schwenk, V., Leal Silva, R. M., Scharf, F., Knaust, K., Wendlandt, M., Häusser, T., Pickl, J. M. A., Steinke-Lange, V., Laner, A., Morak, M., Holinski-Feder, E., Wolf, D. A. Tags: Open access Cancer genetics Source Type: research

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger
CONCLUSIONS: Although rare overall, a significant proportion of younger patients with MLH1-methylated CRC had underlying constitutional MLH1 methylation. Routine testing for this high-risk mechanism is warranted in patients aged ≤55 years for a timely and accurate molecular diagnosis that will significantly alter their clinical management while minimizing additional testing.PMID:37433431 | DOI:10.6004/jnccn.2023.7020 (Source: Journal of the National Comprehensive Cancer Network : JNCCN)
Source: Journal of the National Comprehensive Cancer Network : JNCCN - July 11, 2023 Category: Cancer & Oncology Authors: Megan P Hitchins Estela D ámaso Rocio Alvarez Lisa Zhou Yajing Hu Marcio A Diniz Marta Pineda Gabriel Capella Rachel Pearlman Heather Hampel Source Type: research