Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Fiona E. McRonald Joanna Pethick Francesco Santaniello Brian Shand Adele Tyson Oliver Tulloch Shilpi Goel Margreet L üchtenborg Gillian M. Borthwick Clare Turnbull Adam C. Shaw Kevin J. Monahan Ian M. Frayling Steven Hardy John Burn Source Type: research
Comparison of standard mismatch repair deficiency and microsatellite instability tests in a large cancer series
The tumor-agnostic indication of immune checkpoint inhibitors to treat cancers with mismatch repair deficiency (dMMR)/microsatellite instability (MSI) increased the demand for such tests beyond Lynch syndrome.... (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - February 13, 2024 Category: Research Authors: Maja L. N ádorvári, István Kenessey, András Kiss, Tamás Barbai, Janina Kulka, Erzsébet Rásó and József Tímár Tags: Research Source Type: research
Detection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy
Cancer Gene Therapy, Published online: 09 February 2024; doi:10.1038/s41417-023-00721-zDetection of (pre)cancerous colorectal lesions in Lynch syndrome patients by microsatellite instability liquid biopsy (Source: Cancer Gene Therapy)
Source: Cancer Gene Therapy - February 9, 2024 Category: Cancer & Oncology Authors: Mattia Boeri Stefano Signoroni Chiara Maura Ciniselli Manuela Gariboldi Susanna Zanutto Emanuele Rausa Miriam Segale Anna Zangh ì Maria Teresa Ricci Paolo Verderio Gabriella Sozzi Marco Vitellaro Source Type: research
Circulating metabolome landscape in Lynch syndrome
This study aims to characterize the circulating metabolome of Lynch syndrome carriers, shedding light on the energy metabolism status in this cancer predisposition syndrome.This study consists of a three-group cross-sectional analysis to compare the circulating metabolome of cancer-free Lynch syndrome carriers, sporadic colorectal cancer (CRC) patients, and healthy non-carrier controls. We detected elevated levels of circulating cholesterol, lipids, and lipoproteins in LS carriers. Furthermore, we unveiled that Lynch syndrome carriers and CRC patients displayed similar alterations compared to healthy non-carriers in circul...
Source: Cancer and Metabolism - February 5, 2024 Category: Cancer & Oncology Source Type: research
Loss of symbiotic and increase of virulent bacteria through microbial networks in Lynch syndrome colon carcinogenesis
ConclusionEnhanced fecal virulent/symbiotic bacteria ratios influence bacterial network structures. As an early event in colon carcinogenesis, these ratios can be used to identify asymptomatic LS individual with a higher risk of CRC. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - February 5, 2024 Category: Cancer & Oncology Source Type: research
Cancers, Vol. 16, Pages 671: Real-World Data on Institutional Implementation of Screening for Mismatch Repair Deficiency and Lynch Syndrome in Endometrial Cancer Patients
Franziska Siegenthaler
Lynch syndrome is an inherited tumor syndrome caused by a pathogenic germline variant in DNA mismatch repair genes. As the leading cause of hereditary endometrial cancer, international guidelines recommend universal screening in women with endometrial cancer. However, testing for Lynch syndrome is not yet well established in clinical practice. The aim of this study was to evaluate adherence to our Lynch syndrome screening algorithm. A retrospective, single-center cohort study was conducted of all endometrial cancer patients undergoing surgical treatment at the Bern University Hospital, Switzerlan...
Source: Cancers - February 4, 2024 Category: Cancer & Oncology Authors: Carmen Joder Andrea Gm ür Wiebke Solass Lucine Christe Manuela Rabaglio Muriel Fluri Tilman T. Rau Flurina A. M. Saner Laura Knabben Sara Imboden Michael D. Mueller Franziska Siegenthaler Tags: Article Source Type: research
Sporadic Prostate Cancer in a Patient With Lynch Syndrome
Mayo Clin Proc. 2024 Feb;99(2):344-345. doi: 10.1016/j.mayocp.2023.11.001.NO ABSTRACTPMID:38309942 | DOI:10.1016/j.mayocp.2023.11.001 (Source: Clinical Prostate Cancer)
Source: Clinical Prostate Cancer - February 3, 2024 Category: Cancer & Oncology Authors: Ameya Patil Lori A Erickson Sounak Gupta Source Type: research
Sporadic Prostate Cancer in a Patient With Lynch Syndrome
Mayo Clin Proc. 2024 Feb;99(2):344-345. doi: 10.1016/j.mayocp.2023.11.001.NO ABSTRACTPMID:38309942 | DOI:10.1016/j.mayocp.2023.11.001 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - February 3, 2024 Category: Cancer & Oncology Authors: Ameya Patil Lori A Erickson Sounak Gupta Source Type: research
Sporadic Prostate Cancer in a Patient With Lynch Syndrome
A man in his 60s with Lynch syndrome and a history of colorectal adenocarcinoma and cholangiocarcinoma was found to have a prostatic lesion in the left posterior lateral peripheral zone on magnetic resonance imaging. His serum prostate-specific antigen level was 3.1 ng/mL. (Source: Mayo Clinic Proceedings)
Source: Mayo Clinic Proceedings - February 1, 2024 Category: Internal Medicine Authors: Ameya Patil, Lori A. Erickson, Sounak Gupta Tags: Path to patient image quiz Source Type: research
Low prevalence of gastric intestinal metaplasia and Helicobacter pylori on surveillance upper endoscopy in Lynch syndrome
AbstractLynch syndrome (LS) increases the risk of numerous different cancers including gastric cancer. While some current guidelines recommend empiric gastric biopsies be performed during upper gastrointestinal cancer surveillance in Lynch syndrome (LS), the yield of these biopsies and the prevalence of gastric intestinal metaplasia (GIM) andHelicobacter pylori (HP) in LS remains unknown. Herein we analyze 165 consecutive individuals with LS who underwent upper endoscopic surveillance with biopsies of the gastric antrum and body being performed universally in all individuals. Of the study cohort, 6.7% of universally biopsi...
Source: Familial Cancer - January 31, 2024 Category: Cancer & Oncology Source Type: research
Rare germline mutation and MSH2- & MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report
Multiple primary malignancies are rare in cancer patients, and risk factors may include genetics, viral infection, smoking, radiation, and other environmental factors. Lynch syndrome (LS) is the most prevalent... (Source: Diagnostic Pathology)
Source: Diagnostic Pathology - January 31, 2024 Category: Pathology Authors: Tiansong Zhang, Xiaoqiang Huang, Wenjie Liu, Xiulan Ling, Zhenping Su, Mengwei Huang and Shuanlong Che Tags: Case Report Source Type: research
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
Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families
Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. I... (Source: World Journal of Surgical Oncology)
Source: World Journal of Surgical Oncology - January 27, 2024 Category: Cancer & Oncology Authors: Juyi Li, Haichun Ni, Xiufang Wang, Wenzhuo Cheng, Li Li, Yong Cheng, Chao Liu, Yuanyuan Li and Aiping Deng Tags: Research Source Type: research
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patient
A 66-year-old woman, with a first-degree family history of gastric cancer (GC), a personal history of endometrial intraepithelial neoplasia, and a recent diagnosis of GC, associated with a previously undiagnosed autoimmune gastritis (AIG), was referred to our Clinic. AIG diagnosis was made according the internationally-recognised Sydney-Houston criteria (i.e., atrophy of the corpus/fundus mucosa which spares the antrum in the absence of active Helicobacter pylori infection). Parietal cell antibodies were positive. (Source: Digestive and Liver Disease)
Source: Digestive and Liver Disease - January 22, 2024 Category: Gastroenterology Authors: Alessandro Vanoli, Marco Vincenzo Lenti, Fabio Sirchia, Antonio Di Sabatino Tags: Image of the Month Source Type: research
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Conclusions
Recommendations from the meeting are likely to be applicable for PIL co-design for a wide range of germline genetic testing scenarios. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - January 19, 2024 Category: Genetics & Stem Cells Authors: Kohut, K., Speight, B., Young, J., Way, R., Wiggins, J., Monje-Garcia, L., Eccles, D. M., Foster, C., Turner, L., Snape, K., Hanson, H., on behalf of the CanGene-CanVar Patient Reference Panel, on behalf of the Consensus Meeting Participants, Dale, Duncom Tags: Open access Cancer genetics Source Type: research
