☆ 4.5 Article

Lynch syndrome: influence of additional susceptibility variants on cancer risk

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

Related references

Note: Only part of the references are listed.

Review Biochemistry & Molecular Biology

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

Anthony McGuigan et al.

Summary: Multi-Locus Inherited Neoplasia Allele Syndrome (MINAS) refers to individuals with germline pathogenic variants in two or more cancer susceptibility genes (CSGs). As the use of exome/genome sequencing increases, the detection of MINAS is becoming more frequent. Most MINAS cases have a pathogenic variant in either BRCA1 or BRCA2, while other individual CSG combinations are rare. Some MINAS cases present unusual tumor phenotypes and multiple primary tumors, suggesting complex interactions between the relevant CSGs. Systematic reporting of MINAS cases can improve prognostic predictions for specific CSG combinations.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

Add to Collection

Article Gastroenterology & Hepatology

Lynch syndrome; towards more personalized management?

Joan Llach et al.

Summary: Lynch syndrome is the most common inherited cause of colorectal and endometrial cancer, and its diagnosis can reduce the incidence and mortality of cancer. Colonoscopic surveillance, aspirin, and prophylactic surgery have shown to effectively reduce cancer mortality in this population.

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY (2022)

Add to Collection

Article Oncology

Incident Cancer Risk and Signatures Among Older MUTYH Carriers: Analysis of Population-Based and Genomic Cohorts

Jonathan M. Downie et al.

Summary: MUTYH carriers have an increased risk of colorectal cancer, particularly in males, according to this prospective cohort study. Mutational signatures associated with early loss of heterozygosity were not observed in gastrointestinal epithelial cancers of carriers. This suggests diverse mechanisms of carcinogenesis in carriers compared to those who inherit biallelic MUTYH mutations.

CANCER PREVENTION RESEARCH (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase delta Proofreading Deficiency in Tumorigenesis

Esther Schamschula et al.

Summary: Colorectal cancer (CRC) in adolescents and young adults (AYA) is rare and the genetic causes are not fully understood. In this study, we report two teenage siblings with CRC caused by digenic inheritance of pathogenic variants in the mismatch-repair (MMR) gene PMS2 and the proofreading polymerase (PP) Pol delta gene POLD1. Tumor analysis revealed that tumorigenesis is initiated by MMR deficiency and the inherited POLD1 variant contributes to fast tumor progression. This study provides new insights into the genetic etiology of AYA-CRC.

BIOMOLECULES (2022)

Add to Collection

Article Surgery

European guidelines from theEHTGandESCPfor Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

T. T. Seppala et al.

Summary: Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed clinical guidance focusing on surgical and gastroenterological aspects of the cancer spectrum.

BRITISH JOURNAL OF SURGERY (2021)

Add to Collection

Article Gastroenterology & Hepatology

Gene-Specific Variation in Colorectal Cancer Surveillance Strategies for Lynch Syndrome

Fay Kastrinos et al.

Summary: The simulation model suggests personalized surveillance strategies for Lynch syndrome patients based on specific MMR gene variants. Initiating colonoscopy at age 25 with 1-2 year intervals is recommended for MLH1 and MSH2 gene variants, while starting surveillance at 35 or 40 with 3-year intervals is cost-effective for MSH6 or PMS2 gene variants, respectively. This highlights the importance of tailoring surveillance recommendations to individual gene variants in Lynch syndrome patients.

GASTROENTEROLOGY (2021)

Add to Collection

Article Oncology

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer

Mark A. Jenkins et al.

Summary: Polygenic risk scores (PRS) that predict colorectal cancer in the general population do not predict colorectal cancer for individuals with Lynch syndrome, as revealed by a study on 826 European-descent carriers of pathogenic variants in DNA mismatch repair genes.

JNCI CANCER SPECTRUM (2021)

Add to Collection

Article Genetics & Heredity

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Mev Dominguez-Valentin et al.

GENETICS IN MEDICINE (2020)

Add to Collection

Article Gastroenterology & Hepatology

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)

Kevin J. Monahan et al.

GUT (2020)

Add to Collection

Review Genetics & Heredity

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract

Marion Dhooge et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)

Add to Collection

Article Oncology

Use of targeted next generation sequencing to characterize tumor mutational burden and efficacy of immune checkpoint inhibition in small cell lung cancer

Biagio Ricciuti et al.

JOURNAL FOR IMMUNOTHERAPY OF CANCER (2019)

Add to Collection

Article Oncology

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Ceres Fernandez-Rozadilla et al.

CANCERS (2019)

Add to Collection

Article Biochemistry & Molecular Biology

Maftools: efficient and comprehensive analysis of somatic variants in cancer

Anand Mayakonda et al.

GENOME RESEARCH (2018)

Add to Collection

Article Gastroenterology & Hepatology

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Sahra Bodo et al.

GASTROENTEROLOGY (2015)

Add to Collection

Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

Add to Collection

Article Genetics & Heredity

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 ' exons of TACSTD1

Marjolijn J. L. Ligtenberg et al.

NATURE GENETICS (2009)

Add to Collection

© Peeref 2019-2024. All rights reserved.