MLH1 promotor hypermethylation in colorectal and endometrial carcinomas from patients with Lynch syndrome
Screening for Lynch syndrome (LS) in colorectal cancer (CRC) and endometrial cancer (EC) patients generally involves immunohistochemical staining of the mismatch repair (MMR) proteins. In case of MLH1 protein loss, MLH1 promotor hypermethylation (MLH1-PM) testing is performed to indirectly distinguish constitutional MLH1 variants from somatic epimutations. However, in recent years a growing number of studies have reported that MLH1-PM and pathogenic constitutional MMR variants are not mutually exclusive. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 5, 2023 Category: Pathology Authors: Noah C. Helderman, Katarina D. Andini, Monique E. van Leerdam, Liselotte P. van Hest, Dani ël R. Hoekman, Aysel Ahadova, Sanne W. Bajwa - ten Broeke, Tjalling Bosse, Elise M.J. van der Logt, Floris Imhann, Matthias Kloor, Alexandra M.J. Langers, Vincent Tags: Regular Article Source Type: research
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
European Journal of Human Genetics, Published online: 29 November 2023; doi:10.1038/s41431-023-01494-7A 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 - November 29, 2023 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. 15, Pages 5601: Precision Healthcare and Interventions in Hereditary Breast and Ovarian Cancer and Lynch Syndrome
i
Precision health refers to personalized healthcare that combines genetic and genomic sequence, protein, metabolite, and microbiome information (collectively known as “omics” information) with lifestyle, social, economic, cultural, and environmental influences to help individuals achieve optimal health and well-being [...] (Source: Cancers)
Source: Cancers - November 27, 2023 Category: Cancer & Oncology Authors: Maria C. Katapodi Tags: Editorial Source Type: research
MSH3: a confirmed predisposing gene for adenomatous polyposis
Conclusion
This report lends further credence to biallelic MSH3 germline pathogenic variants being involved in colorectal and duodenal adenomatous polyposis. Large-scale studies may help clarify the tumour spectrum and associated risks. Ascertainment of EMAST may help with the interpretation of variants of unknown significance. We recommend adding MSH3 to dedicated diagnostic gene panels. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Villy, M.-C., Masliah-Planchon, J., Schnitzler, A., Delhomelle, H., Buecher, B., Filser, M., Merchadou, K., Golmard, L., Melaabi, S., Vacher, S., Blanluet, M., Suybeng, V., Corsini, C., Dhooge, M., Hamzaoui, N., Farelly, S., Ait Omar, A., Benamouzig, R., Tags: Cancer genetics Source Type: research
Concurrent uterine surgery and uptake of hormone therapy in patients undergoing bilateral salpingo-oophorectomy for risk-reducing or therapeutic indications
CONCLUSIONS: Rates of hysterectomy declined over the study period and slightly more than one-third of eligible patients utilized post-operative HT. Further research on concurrent uterine surgery is needed to establish standardized treatment recommendations in the risk-reducing and therapeutic BSO population. Additionally, education regarding the benefits of postoperative HT in eligible patients is warranted.PMID:37988946 | DOI:10.1016/j.ygyno.2023.10.023 (Source: Gynecologic Oncology)
Source: Gynecologic Oncology - November 21, 2023 Category: Cancer & Oncology Authors: Simone A Sasse Sarah S Lee Pournami Rajeev Sneha R Sharma Tamara Kahan Bhavana Pothuri Source Type: research
"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
CONCLUSION: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.TRIAL REGISTRATION: Not available: not a clinical trial.PMID:37978552 | DOI:10.1186/s13053-023-00270-4 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - November 18, 2023 Category: Cancer & Oncology Authors: Jennifer L Schneider Alison J Firemark Sara Gille James Davis Pamala A Pawloski Su-Ying Liang Mara M Epstein Jan Lowery Christine Y Lu Ravi N Sharaf Andrea N Burnett-Hartman Victoria Schlieder Zachary M Salvati Deborah Cragun Alanna Kulchak Rahm Jessica E Source Type: research
"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
CONCLUSION: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.TRIAL REGISTRATION: Not available: not a clinical trial.PMID:37978552 | PMC:PMC10657118 | DOI:10.1186/s13053-023-00270-4 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - November 18, 2023 Category: Cancer & Oncology Authors: Jennifer L Schneider Alison J Firemark Sara Gille James Davis Pamala A Pawloski Su-Ying Liang Mara M Epstein Jan Lowery Christine Y Lu Ravi N Sharaf Andrea N Burnett-Hartman Victoria Schlieder Zachary M Salvati Deborah Cragun Alanna Kulchak Rahm Jessica E Source Type: research
"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
CONCLUSION: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.TRIAL REGISTRATION: Not available: not a clinical trial.PMID:37978552 | PMC:PMC10657118 | DOI:10.1186/s13053-023-00270-4 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - November 18, 2023 Category: Cancer & Oncology Authors: Jennifer L Schneider Alison J Firemark Sara Gille James Davis Pamala A Pawloski Su-Ying Liang Mara M Epstein Jan Lowery Christine Y Lu Ravi N Sharaf Andrea N Burnett-Hartman Victoria Schlieder Zachary M Salvati Deborah Cragun Alanna Kulchak Rahm Jessica E Source Type: research
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
ConclusionOur qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS. Patients offer key insights for health systems to guide future implementation and optimization of UTS and other LS screening programs and maximize diagnosis of individuals with LS and improve cancer-related surveillance and outcomes.Trial registrationNot available: not a clinical trial. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 17, 2023 Category: Cancer & Oncology Source Type: research
Functional and phenotypic consequences of an unusual inversion in MSH2
AbstractLynch syndrome is an autosomal dominant disorder that usually results from a pathogenic germline variant in one of four genes (MSH2,MSH6,MLH1,PMS2) involved in DNA mismatch repair. Carriers of such variants are at risk of developing numerous cancers during adulthood. Here we report on a family suspected of having Lynch syndrome due to a history of endometrial adenocarcinoma, ovarian clear cell carcinoma, and adenocarcinoma of the duodenum in whom we identified a germline 29 nucleotide in-frame inversion in exon 3 ofMSH2. We further show that this variant is almost completely absent at the protein level, and that th...
Source: Familial Cancer - November 14, 2023 Category: Cancer & Oncology Source Type: research
Genes, Vol. 14, Pages 2060: MLH1 Promoter Methylation Could Be the Second Hit in Lynch Syndrome Carcinogenesis
Conclusions: MLH1 hypermethylation should not be exclusively considered as a sporadic cancer mechanism, as a non-negligible number of LS-related cancers are MLH1 hypermethylated. Current flow charts for universal LS screening, which include MLH1 methylation, should be applied, paying attention to a patient’s family and personal history. (Source: Genes)
Source: Genes - November 9, 2023 Category: Genetics & Stem Cells Authors: Ileana Wanda Carnevali Giulia Cini Laura Libera Nora Sahnane Sofia Facchi Alessandra Viel Fausto Sessa Maria Grazia Tibiletti Tags: Article Source Type: research
Pharmaceutical agents as potential drivers in the development of Early-Onset Colorectal Cancer: A Case-Control Study
CONCLUSIONS: Our analysis suggests that the development of EOCRC may be correlated with prior use of specific medications. Additional analyses should be employed to validate the results. The mechanism of action inducing EOCRC by candidate pharmaceutical agents will then need to be determined.PMID:37933755 | DOI:10.2196/50110 (Source: Cancer Control)
Source: Cancer Control - November 7, 2023 Category: Cancer & Oncology Authors: Irit Ben-Aharon Ran Rotem Cheli Metzger Gilad Twig Andrea Cercek Elizabeth Half Tal Ghosen Gabriel Chodik David Kelsen Source Type: research
Referral, Uptake, and Outcome of Genetic Counseling and Testing in Patients With Early-Onset Colorectal Cancer
CONCLUSIONS: Referral to GC for patients with EOCRC is increasing over time; however, even in recent years, almost 25% of patients were not referred for GC. We found that 1 in 5 patients with EOCRC carry actionable PGVs, highlighting the need for health systems to implement care pathways to optimize GC referral and testing in all patients with EOCRC.PMID:37935108 | DOI:10.6004/jnccn.2023.7057 (Source: Journal of the National Comprehensive Cancer Network : JNCCN)
Source: Journal of the National Comprehensive Cancer Network : JNCCN - November 7, 2023 Category: Cancer & Oncology Authors: Hareem Syed Joshua Sommovilla Carol A Burke Sarah McGee Carole Macaron Brandie Heald Ruishen Lyu Stephanie L Schmit Kanika Nair Suneel Kamath Smitha Krishnamurthi Alok A Khorana David Liska Source Type: research
