Cancers, Vol. 15, Pages 3663: The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population
Conclusion: The most common genes affected in the diagnostic and EstBB cohorts were MLH1 and PMS2 genes, respectively. The LS diagnosis mean age was 44.8 years for index cases and 36.8 years (p = 0.003) for family members. In the MMR IHC pilot study, 29% had LS. (Source: Cancers)
Source: Cancers - July 18, 2023 Category: Cancer & Oncology Authors: Laura Roht Piret Laidre Mikk Tooming Neeme T õnisson Margit N õukas Miriam Nurm Estonian Biobank Research Team Hanno Roomere Kadri Rekker Kadri Toome Olga Fjodorova Ülle Murumets Ustina Šamarina Sander Pajusalu Anu Aasp õllu Liis Salum äe Kristina Tags: Review Source Type: research
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan
CONCLUSIONS: MA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.PMID:37460934 | DOI:10.1186/s13053-023-00258-0 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - July 17, 2023 Category: Cancer & Oncology Authors: Kyota Tatsuta Mayu Sakata Moriya Iwaizumi Risa Kojima Katsumasa Yamanaka Satoshi Baba Katsunori Suzuki Yoshifumi Morita Hirotoshi Kikuchi Yoshihiro Hiramatsu Kiyotaka Kurachi Hiroya Takeuchi Source Type: research
Characteristics of glioblastomas and immune microenvironment in a Chinese family with Lynch syndrome and concurrent porokeratosis
ConclusionLS-associated GBM exhibits heterogeneity in clinicopathologic and molecular genetic features, as well as a suppressive TIME. The presence of MMR deficiency and TMB-H may serve as predictive factors for the response to immune checkpoint inhibitor therapy in GBMs. The identification of LS-associated GBM can provide significant benefits to both patients and their family members, including accurate diagnosis, genetic counseling, and appropriate screening or surveillance protocols. Our study serves as a reminder to clinicians and pathologists to consider the possibility of concurrent genetic syndromes in individuals o...
Source: Frontiers in Oncology - July 17, 2023 Category: Cancer & Oncology Source Type: research
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan
ConclusionsMA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 17, 2023 Category: Cancer & Oncology Source Type: research
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
ConclusionsThe presented case contributes to the etiology of LLS and confirms the need for specific genetic testing, together with genetic counseling, in hereditary cancer syndromes. The use of combined information from clinicians, pathologists, genetic counselors, and data from NGS testing for cancer predisposition, clinical surveillance, and follow-up management in women with gynecology cancers, especially SEOC, could be improved. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 14, 2023 Category: Cancer & Oncology Source Type: research
Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger
CONCLUSIONS: Although rare overall, a significant proportion of younger patients with MLH1-methylated CRC had underlying constitutional MLH1 methylation. Routine testing for this high-risk mechanism is warranted in patients aged ≤55 years for a timely and accurate molecular diagnosis that will significantly alter their clinical management while minimizing additional testing.PMID:37433431 | DOI:10.6004/jnccn.2023.7020 (Source: Journal of the National Comprehensive Cancer Network : JNCCN)
Source: Journal of the National Comprehensive Cancer Network : JNCCN - July 11, 2023 Category: Cancer & Oncology Authors: Megan P Hitchins Estela D ámaso Rocio Alvarez Lisa Zhou Yajing Hu Marcio A Diniz Marta Pineda Gabriel Capella Rachel Pearlman Heather Hampel Source Type: research
