Lynch Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

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

“De novo replication repair deficient glioblastoma, IDH-wildtype” is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade
AbstractGlioblastoma is a clinically and molecularly heterogeneous disease, and new predictive biomarkers are needed to identify those patients most likely to respond to specific treatments. Through prospective genomic profiling of 459 consecutive primary treatment-na ïve IDH-wildtype glioblastomas in adults, we identified a unique subgroup (2%, 9/459) defined by somatic hypermutation and DNA replication repair deficiency due to biallelic inactivation of a canonical mismatch repair gene. The deleterious mutations in mismatch repair genes were often present in th e germline in the heterozygous state with somatic inactivati...
Source: Acta Neuropathologica - December 11, 2023 Category: Neurology Source Type: research

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

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