Sebaceous neoplasia and the Muir–Torre syndrome: important connections with clinical implications

SC Shalin, S Lyle, E Calonje, AJF Lazar - Histopathology, 2010 - Wiley Online Library
Shalin SC, Lyle S, Calonje E & Lazar AJF (2010) Histopathology56, 133–147 Sebaceous
neoplasia and the Muir–Torre syndrome: important connections with clinical implications …

Constitutive deficiency in DNA mismatch repair

KEA Felton, DM Gilchrist, SE Andrew - Clinical genetics, 2007 - Wiley Online Library
Mutations in the DNA mismatch repair (MMR) genes are associated with the inheritance of
hereditary non‐polyposis colorectal cancer, also known as Lynch syndrome, a cancer …

Genetic insights into familial tumors of the nervous system

G Melean, R Sestini, F Ammannati… - American Journal of …, 2004 - Wiley Online Library
Nervous system tumors represent unique neoplasms that arise within the central and
peripheral nervous system. While the vast majority of nervous system neoplasm occur …

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

MR Hegde, B Chong, ME Blazo, LHE Chin… - Clinical cancer …, 2005 - AACR
Heterozygous mutations in one of the DNA mismatch repair genes cause hereditary
nonpolyposis colorectal cancer (MIM114500). Turcot syndrome (MIM276300) has been …

Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer

L Edelmann, W Edelmann - … Journal of Medical Genetics Part C …, 2004 - Wiley Online Library
Germline mutations in DNA mismatch repair genes underlie one of the most common
hereditary cancer predisposition syndromes known in humans, hereditary nonpolyposis …

Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics

A Maradiegue, QT Edwards, D Seibert… - Journal of the …, 2005 - journals.lww.com
Purpose To describe the current medical genetic knowledge and perceptions of graduate
advanced practice nursing (advanced practice nurse [APN]/nurse practitioner and nurse …

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

DL Worthley, MD Walsh, M Barker, A Ruszkiewicz… - Gastroenterology, 2005 - Elsevier
Background & Aims: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal
dominant disorder caused by familial mutations in some of the genes responsible for DNA …

Hereditary tumor syndromes and gliomas

D Reuss, A Von Deimling - Gliomas, 2009 - Springer
Several congenital syndromes caused by germline mutations in tumor suppressor genes
predispose to the development of glial tumors. In the last few decades our knowledge about …

[HTML][HTML] MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir–Torre syndrome

V Chhibber, K Dresser, M Mahalingam - Modern Pathology, 2008 - Elsevier
Abstract The subtype of Muir–Torre syndrome, allelic to hereditary nonpolyposis colorectal
cancer is typically associated with germline mutations in the mismatch repair proteins MSH …

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

R Tricarico, M Kasela, C Mareni, BA Thompson… - Human …, 2017 - Wiley Online Library
Pathogenicity assessment of DNA variants in disease genes to explain their clinical
consequences is an integral component of diagnostic molecular testing. The International …