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

Genomic Landscape of Lynch Syndrome Colorectal Neoplasia Identifies Shared Mutated Neoantigens for Immunoprevention
We report a focused somatic mutation and frameshift-neoAg landscape of microsatellite loci from colorectal polyps without malignant potential (PWOMPs), pre-cancers and early-stage cancers in LS carriers. (Source: Gastroenterology)
Source: Gastroenterology - January 18, 2024 Category: Gastroenterology Authors: Ana M. Bolivar, Fahriye Duzagac, Nan Deng, Laura Reyes-Uribe, Kyle Chang, Wenhui Wu, Charles M. Bowen, Melissa W. Taggart, Selvi Thirumurthi, Patrick M. Lynch, Y. Nancy You, Jesus Rodriguez-Pascual, Steven M. Lipkin, Scott Kopetz, Paul Scheet, Gregory A. Tags: Basic and Translational - Alimentary Tract Source Type: research

Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01519-1Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: P ål Marius Bjørnstad Ragnhild Aal økken June Åsheim Arvind Y. M. Sundaram Caroline N. Felde G. Henriette Østby Marianne Dalland Wenche Sjursen Christian Carrizosa Magnus D. Vigeland Hanne S. Sorte Ying Sheng Sarah L. Ariansen Eli Marie Grindedal Gre Source Type: research

Cancers, Vol. 16, Pages 172: Concurrent Endometrial Cancer in Women with Atypical Endometrial Hyperplasia: What Is the Predictive Value of Patient Characteristics?
Conclusions: Patient characteristics did not show satisfactory performance in predicting EC in AEH. Risk stratification in AEH based mainly on patient characteristics may be clinically unsuitable. (Source: Cancers)
Source: Cancers - December 29, 2023 Category: Cancer & Oncology Authors: Luca Giannella Francesco Piva Giovanni Delli Carpini Jacopo Di Giuseppe Camilla Grelloni Matteo Giulietti Francesco Sopracordevole Giorgio Giorda Anna Del Fabro Nicol ò Clemente Barbara Gardella Giorgio Bogani Orsola Brasile Ruby Martinello Marta Caretto Tags: Article Source Type: research

Prevalence and type of MMR expression heterogeneity in colorectal adenocarcinoma: therapeutic implications and reporting
AbstractMismatch repair (MMR) immunohistochemical (IHC) evaluation has entered pathology routine practice as the first-line screening method to identify patients with MMR deficient (MMRd)/microsatellite instability (MSI) colorectal cancer (CRC), and its misdiagnosis may significantly impact the personalization of CRC patient care. To determine the prevalence of MMR protein intratumor heterogeneity in real-world practice, we collected a series of 8282 CRCs tested for MMR proteins in the setting of Lynch syndrome universal screening. Four heterogenous cases were also investigated for tumor infiltrating lymphocytes count, MSI...
Source: Virchows Archiv - December 23, 2023 Category: Pathology Source Type: research

Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
ConclusionsProbands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due. (Sour...
Source: Hereditary Cancer in Clinical Practice - December 19, 2023 Category: Cancer & Oncology Source Type: research

Clinicopathological features of colorectal cancer patients under 30 years of age
CONCLUSIONS: Younger patients are usually diagnosed with CRC in advanced stages. Early symptoms and evaluation, irrespective of age, are crucial.PMID:38096862 | DOI:10.24875/CIRU.22000467 (Source: Cirugia y Cirujanos)
Source: Cirugia y Cirujanos - December 14, 2023 Category: Surgery Authors: Horacio N L ópez-Basave Flavia Morales-V ázquez Gerardo Miranda-D évora Juan P Olmos-Garc ía Karla F Hern ández-Castañeda Luis G Rivera-Mogollan Wendy R Mu ñoz-Montaño Source Type: research