Hereditary colorectal cancer

H Hampel, MF Kalady, R Pearlman… - Hematology …, 2022 - hemonc.theclinics.com
Around 10% to 16% 1–4 of all individuals with colorectal cancer have a pathogenic variant
in a cancer susceptibility gene (Table 1). While not all of these genes have been associated …

How should we test for Lynch syndrome? A review of current guidelines and future strategies

R Gallon, P Gawthorpe, RL Phelps, C Hayes… - Cancers, 2021 - mdpi.com
Simple Summary Carriers of Lynch syndrome (LS) have an increased risk for several types
of tumour, in particular bowel and uterine cancers. LS is caused by inheritance of a faulty …

Prevalence and prognosis of lynch syndrome and sporadic mismatch repair deficiency in endometrial cancer

CCB Post, E Stelloo, VT Smit, D Ruano… - JNCI: Journal of the …, 2021 - academic.oup.com
Background Standard screening of endometrial cancer (EC) for Lynch syndrome (LS) is
gaining traction; however, the prognostic impact of an underlying hereditary etiology is …

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome

R Walker, K Mahmood, JE Joo, M Clendenning… - Journal of Translational …, 2023 - Springer
Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in
colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant …

Risk assessment and genetic counseling for Lynch syndrome–Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the …

S Holter, MJ Hall, H Hampel… - Journal of genetic …, 2022 - Wiley Online Library
Identifying individuals who have Lynch syndrome involves a complex diagnostic workup that
includes taking a detailed family history and a combination of various tests such as …

[HTML][HTML] Validation of long mononucleotide repeat markers for detection of microsatellite instability

JH Lin, S Chen, A Pallavajjala, LB Guedes… - The Journal of Molecular …, 2022 - Elsevier
Mismatch repair deficiency (dMMR) predicts response to immune checkpoint inhibitor
therapy in solid tumors. Long mononucleotide repeat (LMR) markers may improve the …

[HTML][HTML] Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation

M Kaya, CCB Post, CM Tops, M Nielsen, EJ Crosbie… - Modern Pathology, 2024 - Elsevier
Universal tumor screening in endometrial carcinoma (EC) is increasingly adopted to identify
individuals at risk of Lynch syndrome (LS). These cases involve mismatch repair-deficient …

Mismatch repair and clinical response to immune checkpoint inhibitors in endometrial cancer

Y Antill, DD Buchanan, CL Scott - Cancer, 2022 - Wiley Online Library
Lay Summary Endometrial cancer is common, and a subset recurs and requires additional
treatment. Some of these are recognized as being susceptible to immune therapies and are …

Mismatch repair gene MSH6 correlates with the prognosis, immune status and immune checkpoint inhibitors response of endometrial cancer

LZ Zhou, HQ Xiao, J Chen - Frontiers in Immunology, 2024 - frontiersin.org
Objective Many patients treated with immune checkpoint inhibitors (ICIs) developed primary
or secondary drug resistance for unknown reasons. This study investigates whether …

Mismatch repair protein expression in endometrial cancer: assessing concordance and unveiling pitfalls in two different immunohistochemistry assays

H Yoshida, W Takigawa, M Kobayashi-Kato… - Journal of Personalized …, 2023 - mdpi.com
This study aimed to compare the concordance and interchangeability of the Dako/Agilent
and Ventana/Roche mismatch repair (MMR) immunohistochemistry (IHC) assays commonly …