Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
ConclusionUniversal screening could be an option to address the problem of underdiagnosis. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 20, 2023 Category: Cancer & Oncology Source Type: research
Cancers, Vol. 15, Pages 5061: Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort
Gigante
Raffaele Armentano
Vittoria Disciglio
Cristiano Simone
Lynch syndrome (LS) is an inherited cancer susceptibility syndrome caused by germline mutations in a DNA mismatch repair (MMR) gene or in the EPCAM gene. LS is associated with an increased lifetime risk of colorectal cancer (CRC) and other malignancies. The screening algorithm for LS patient selection is based on the identification of CRC specimens that have MMR loss/high microsatellite instability (MSI-H) and are wild-type for BRAFV600. Here, we sought to clinically and molecularly characterize patients with these features. From 2017 to 2023, 841 CR...
Source: Cancers - October 19, 2023 Category: Cancer & Oncology Authors: Antonino Pantaleo Giovanna Forte Filomena Cariola Anna Maria Valentini Candida Fasano Paola Sanese Valentina Grossi Antonia Lucia Buonadonna Katia De Marco Martina Lepore Signorile Anna Filomena Guglielmi Andrea Manghisi Gianluigi Gigante Raffaele Armenta Tags: Article Source Type: research
Preventive strategies in familial and hereditary colorectal cancer
Best Pract Res Clin Gastroenterol. 2023 Oct;66:101840. doi: 10.1016/j.bpg.2023.101840. Epub 2023 May 24.ABSTRACTColorectal cancer is a leading cause of cancer-related deaths worldwide. While most cases are sporadic, a significant proportion of cases are associated with familial and hereditary syndromes. Individuals with a family history of colorectal cancer have an increased risk of developing the disease, and those with hereditary syndromes such as Lynch syndrome or familial adenomatous polyposis have a significantly higher risk. In these populations, preventive strategies are critical for reducing the incidence and morta...
Source: Clinical Colorectal Cancer - October 18, 2023 Category: Cancer & Oncology Authors: Zachariah H Foda Pooja Dharwadkar Bryson W Katona Source Type: research
Lung adenocarcinoma in a patient with Lynch syndrome: a case report and literature review
This article presents a case of a 62-year-old Vietnamese woman with a history of Lynch syndrome (LS), who developed lung adenocarcinoma with EGFR L858R mutation. LS is an autosomal dominant cancer predisposition syndrome caused by a pathogenic germline variant in DNA mismatch repair genes, often leading to microsatellite instability. While LS is primarily associated with gastrointestinal, endometrial, ovarian, and urologic tract cancers, lung cancer accounts for less than 1% of LS-related cancers, with only six cases of LS-related lung cancer previously reported in the literature. The patient underwent multiple lines of tr...
Source: Frontiers in Oncology - October 13, 2023 Category: Cancer & Oncology Source Type: research
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
CONCLUSIONS: In this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers.PMID:37828628 | DOI:10.1186/s13053-023-00265-1 (Source: Clinical Prostate Cancer)
Source: Clinical Prostate Cancer - October 12, 2023 Category: Cancer & Oncology Authors: Suguru Oka Shinji Urakami Kiichi Hagiwara Michikata Hayashida Kazushige Sakaguchi Yuji Miura Naoko Inoshita Masami Arai Source Type: research
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
CONCLUSIONS: In this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers.PMID:37828628 | DOI:10.1186/s13053-023-00265-1 (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - October 12, 2023 Category: Cancer & Oncology Authors: Suguru Oka Shinji Urakami Kiichi Hagiwara Michikata Hayashida Kazushige Sakaguchi Yuji Miura Naoko Inoshita Masami Arai Source Type: research
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
ConclusionsIn this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 12, 2023 Category: Cancer & Oncology Source Type: research
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement
Hered Cancer Clin Pract. 2023 Oct 11;21(1):19. doi: 10.1186/s13053-023-00263-3.ABSTRACTThe recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an "average sex "or a pathogenic variant in an "average Lynch syndrome gene" and results that are not stratified ...
Source: Clinical Colorectal Cancer - October 11, 2023 Category: Cancer & Oncology Authors: Pal M øller Toni T Sepp älä Aysel Ahadova Emma J Crosbie Elke Holinski-Feder Rodney Scott Saskia Haupt Gabriela M öslein Ingrid Winship Sanne W Bajwa-Ten Broeke Kelly E Kohut Neil Ryan Peter Bauerfeind Laura E Thomas D Gareth Evans Stefan Aretz Rolf H Source Type: research
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
AbstractThe recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genesMSH2, MLH1, MSH6 andPMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of theseMMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear p...
Source: Hereditary Cancer in Clinical Practice - October 11, 2023 Category: Cancer & Oncology Source Type: research
Cancers, Vol. 15, Pages 4925: DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
son
Annabel Goodwin
Marion T. Harris
Emilia Ip
Judy Kirk
Julia Mansour
Helen Mar Fan
Cassandra Nichols
Nicholas Pachter
Abiramy Ragunathan
Allan Spigelman
Rachel Susman
Michael Christie
Mark A. Jenkins
Rish K. Pai
Christophe Rosty
Finlay A. Macrae
Ingrid M. Winship
Daniel D. Buchanan
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. Lynch syndrome specific tumor features were evaluated for their ability to support the ACMG/InSiGHT framework in classifying variants of uncertain clinical sig...
Source: Cancers - October 10, 2023 Category: Cancer & Oncology Authors: Romy Walker Khalid Mahmood Julia Como Mark Clendenning Jihoon E. Joo Peter Georgeson Sharelle Joseland Susan G. Preston Bernard J. Pope James M. Chan Rachel Austin Jasmina Bojadzieva Ainsley Campbell Emma Edwards Margaret Gleeson Annabel Goodwin Marion T. Tags: Article Source Type: research
Use of Endoscopic Submucosal Dissection in a patient with synchronous and metachronous gastric cancers secondary to MSH2-Related Lynch Syndrome
(Source: Gastrointestinal Endoscopy)
Source: Gastrointestinal Endoscopy - October 6, 2023 Category: Gastroenterology Authors: Albert Civitarese, Natalie Farha, Sarah Elsoukkary, Amit Bhatt, Carol A. Burke Source Type: research
Screening and Management of Lynch Syndrome: The Chinese Experience
Clin Colon Rectal Surg. 2023 May 3;36(6):369-377. doi: 10.1055/s-0043-1767706. eCollection 2023 Nov.ABSTRACTLynch syndrome (LS), caused by germline mutations in the mismatch repair genes, is the most common hereditary colorectal cancer. While LS is also associated with various cancers, early detection of the proband is meaningful for tumor prevention, treatment, and familial management. It has been a dramatic shift on the screening approaches for LS. As the rapid development of the molecular biological methods, a comprehensive understanding of the LS screening strategies will help to improve the clinical care for this syst...
Source: Clinical Colorectal Cancer - October 5, 2023 Category: Cancer & Oncology Authors: Jiehai Yu Pei-Rong Ding Wu Jiang Source Type: research
Screening and Management of Lynch Syndrome: The Chinese Experience
Clin Colon Rectal Surg. 2023 May 3;36(6):369-377. doi: 10.1055/s-0043-1767706. eCollection 2023 Nov.ABSTRACTLynch syndrome (LS), caused by germline mutations in the mismatch repair genes, is the most common hereditary colorectal cancer. While LS is also associated with various cancers, early detection of the proband is meaningful for tumor prevention, treatment, and familial management. It has been a dramatic shift on the screening approaches for LS. As the rapid development of the molecular biological methods, a comprehensive understanding of the LS screening strategies will help to improve the clinical care for this syst...
Source: Clinical Colorectal Cancer - October 5, 2023 Category: Cancer & Oncology Authors: Jiehai Yu Pei-Rong Ding Wu Jiang Source Type: research
Prevalence and characteristics of patients with upper urinary tract urothelial carcinoma having potential Lynch syndrome identified by immunohistochemical universal screening and Amsterdam criteria II
This study aimed to identify patients with upper urinary tract urothelial carcinoma (UTUC) having potential Lynch syndrome (pLS) by immunohistochemistry (IHC) of DNA mismatch repair gene-related proteins (MMRP... (Source: BMC Cancer)
Source: BMC Cancer - October 5, 2023 Category: Cancer & Oncology Authors: Kenji Tanabe, Yasukazu Nakanishi, Naoya Okubo, Shunya Matsumoto, Yosuke Umino, Madoka Kataoka, Shugo Yajima, Teruhiko Yoshida, Saori Miyazaki, Takeshi Kuwata, Genichiro Ishii, Reiko Watanabe and Hitoshi Masuda Tags: Research Source Type: research
Risk of metachronous colorectal cancer after colectomy for first colon cancer in Lynch syndrome: multicenter retrospective study in Japan
CONCLUSIONS: To reduce the incidence of mCRC, patients with genetically diagnosed LS and fCC, preferentially located in the left-sided colon, may need to undergo more extended colectomy than that usually performed in Japan. However, such extended colectomy should be counterbalanced with favorable overall survival and actual risk of mCRC development.PMID:37752370 | DOI:10.1007/s10147-023-02412-z (Source: Clinical Colorectal Cancer)
Source: Clinical Colorectal Cancer - September 26, 2023 Category: Cancer & Oncology Authors: Kenichi Chikatani Hideyuki Ishida Yoshiko Mori Takeshi Nakajima Arisa Ueki Kiwamu Akagi Akinari Takao Masayoshi Yamada Fumitaka Taniguchi Koji Komori Kazuhito Sasaki Tomoya Sudo Yasuyuki Miyakura Akiko Chino Tatsuro Yamaguchi Kohji Tanakaya Naohiro Tomita Source Type: research
