Cancers, Vol. 15, Pages 5762: Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome
In conclusion, VUSs appear to be detected in almost one third patients tested for cancer genetic syndromes, and thus future work is warranted to determine their significance in cancer development. (Source: Cancers)
Source: Cancers - December 8, 2023 Category: Cancer & Oncology Authors: Pavlina Chrysafi Chinmay T. Jani Margaret Lotz Omar Al Omari Harpreet Singh Katherine Stafford Lipisha Agarwal Arashdeep Rupal Abdul Qadir Dar Abby Dangelo Prudence Lam Tags: Article Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 7, 2023 Category: Chemistry Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: Clinical Breast Cancer)
Source: Clinical Breast Cancer - December 7, 2023 Category: Cancer & Oncology Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: Clinical Genitourinary Cancer)
Source: Clinical Genitourinary Cancer - December 7, 2023 Category: Cancer & Oncology Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - December 7, 2023 Category: Cancer & Oncology Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: International Journal of Clinical Chemistry)
Source: International Journal of Clinical Chemistry - December 7, 2023 Category: Chemistry Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
CONCLUSIONS: Multigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.PMID:38061684 | DOI:10.1016/j.cca.2023.117695 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - December 7, 2023 Category: Cancer & Oncology Authors: Mar Infante M ónica Arranz-Ledo Enrique Lastra Amaya Olaverri Raquel Ferreira Marta Orozco Lara Hern ández Noem í Martínez Mercedes Dur án Source Type: research
GI highlights from the literature
In this study, Harrold et al quantified cancer risk after ICB in patients with Lynch syndrome at a tertiary centre in New York. One hundred and seventy-two patients with Lynch-related tumours who underwent ICB over a 9-year period were identified retrospectively. Median... (Source: Gut)
Source: Gut - December 7, 2023 Category: Gastroenterology Authors: Smith, P. J. Tags: Gut JournalScan Source Type: research
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
