[HTML][HTML] Genetic predisposition to colorectal cancer: where we stand and future perspectives

L Valle - World journal of gastroenterology: WJG, 2014 - ncbi.nlm.nih.gov
The development of colorectal cancer (CRC) can be influenced by genetic factors in both
familial cases and sporadic cases. Familial CRC has been associated with genetic changes …

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

DD Buchanan, C Rosty, M Clendenning… - The application of …, 2014 - Taylor & Francis
Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a
high risk of developing numerous different cancers, predominantly colorectal cancer and …

[HTML][HTML] Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 …

DD Buchanan, YY Tan, MD Walsh… - Journal of Clinical …, 2014 - ncbi.nlm.nih.gov
Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients
With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for …

Somatic aberrations of mismatch repair genes as a cause of microsatellite‐unstable cancers

WRR Geurts‐Giele, CHM Leenen… - The Journal of …, 2014 - Wiley Online Library
Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes,
resulting in microsatellite‐unstable tumours. Approximately 35% of suspected LS (sLS) …

[HTML][HTML] ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH …

M Hegde, M Ferber, R Mao, W Samowitz… - Genetics in …, 2014 - nature.com
Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated
polyposis are three major known types of inherited colorectal cancer, which accounts for up …

[HTML][HTML] Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA …

AB Spurdle, FJ Couch, MT Parsons, L McGuffog… - Breast Cancer …, 2014 - Springer
Introduction The distribution of histopathological features of invasive breast tumors in
BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known …

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

H Zhao, B Thienpont, BT Yesilyurt, M Moisse… - Elife, 2014 - elifesciences.org
DNA replication errors that persist as mismatch mutations make up the molecular fingerprint
of mismatch repair (MMR)-deficient tumors and convey them with resistance to standard …

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

K Newton, NM Jorgensen, AJ Wallace… - Journal of medical …, 2014 - jmg.bmj.com
Background and aims Lynch syndrome (LS) patients have DNA mismatch repair deficiency
and up to 80% lifetime risk of colorectal cancer (CRC). Screening of mutation carriers …

Clinical significance of microsatellite instability in colorectal cancer

M Kloor, L Staffa, A Ahadova… - … archives of surgery, 2014 - Springer
Introduction Colorectal cancer is a heterogeneous tumor type with regard to molecular
pathogenesis and genetic instability. The majority of colorectal cancers display …

Detection of the BRAF V600E mutation in colon carcinoma: critical evaluation of the imunohistochemical approach

J Lasota, A Kowalik, B Wasag, ZF Wang… - The American journal …, 2014 - journals.lww.com
Abstract Recently BRAF V600E mutant–specific antibody (clone VE1) became available to
immunohistochemically pinpoint the occurrence of these BRAF-mutant proteins in different …