DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome
G Poulogiannis, IM Frayling, MJ Arends - Histopathology, 2010 - Wiley Online Library
Poulogiannis G, Frayling IM & Arends MJ (2010) Histopathology56, 167–179 DNA mismatch
repair deficiency in sporadic colorectal cancer and Lynch syndrome DNA mismatch repair …
repair deficiency in sporadic colorectal cancer and Lynch syndrome DNA mismatch repair …
[HTML][HTML] The NF1 somatic mutational landscape in sporadic human cancers
C Philpott, H Tovell, IM Frayling, DN Cooper… - Human genomics, 2017 - Springer
Abstract Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man
(OMIM)# 162200) is an autosomal dominantly inherited tumour predisposition syndrome …
(OMIM)# 162200) is an autosomal dominantly inherited tumour predisposition syndrome …
Molecular pathology of Lynch syndrome
Lynch syndrome (LS) is characterised by predisposition to colorectal, endometrial, and other
cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair …
cancers and is caused by inherited pathogenic variants affecting the DNA mismatch repair …
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2018 - gut.bmj.com
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now
survive both their first and subsequent cancers, resulting in a growing number of older …
survive both their first and subsequent cancers, resulting in a growing number of older …
[HTML][HTML] Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
syndrome and result in different but imprecisely known cancer risks. This study aimed to …
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome …
P Møller, T Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2017 - gut.bmj.com
Objective Estimates of cancer risk and the effects of surveillance in Lynch syndrome have
been subject to bias, partly through reliance on retrospective studies. We sought to establish …
been subject to bias, partly through reliance on retrospective studies. We sought to establish …
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
The clinical classification of hereditary sequence variants identified in disease-related genes
directly affects clinical management of patients and their relatives. The International Society …
directly affects clinical management of patients and their relatives. The International Society …
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809 …
K Rojnueangnit, J Xie, A Gomes, A Sharp… - Human …, 2015 - Wiley Online Library
ABSTRACT Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders,
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
affecting 1: 3,000 worldwide. Identification of genotype–phenotype correlations is …
[HTML][HTML] The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
Purpose There are no internationally agreed upon clinical guidelines as to which women
with gynecological cancer would benefit from Lynch syndrome screening or how best to …
with gynecological cancer would benefit from Lynch syndrome screening or how best to …