Clinical and molecular detection of inherited colorectal cancers in northeast Italy : A first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy.
Summary of "Clinical and molecular detection of inherited colorectal cancers in northeast Italy : A first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy."
The reported incidence of hereditary colorectal cancers (CRCs) is widely variable. The principal aim of the study was to prospectively evaluate the incidence of familial CRCs in a region of northern Italy using a standardized method. Consecutive CRC patients were prospectively enrolled from October 2002 to December 2003. Patients underwent a structured family history, the microsatellite instability (MSI) test and a screen for MUTYH mutations. Following family history patients were classified as belonging to high, moderate and mild risk families. Immunohistochemistry for MLH1, MSH2, MSH6 and PMS2 proteins and investigation for MLH1/MSH2 mutations, for MLH1 promoter methylation and for the V600E hotspot BRAF mutation were performed in high MSI (MSI-H) cases. Of the 430 patients enrolled, 17 (4%) were high risk [4 hereditary non-polyposis colorectal cancer (HNPCC), 12 suspected HNPCC and 1 MUTYH-associated adenomatous polyposis coli (MAP)], 53 moderate risk and 360 mild risk cases. The MSI test was performed on 393 tumours, and 46 (12%) of them showed MSI-H. In these patients, one MLH1 pathogenetic mutations and two MSH2 pathogenetic mutations were found. Thirty-two (70%) MSI-H cases demonstrated MLH1 methylation and/or BRAF mutation: None of them showed MLH1/MSH2 mutation. Two biallelic germline MUTYH mutations were found, one with clinical features of MAP. A strong family history of CRC was present in 4% of the enrolled cases; incidence of MLH1/MSH2 or MUTHY mutations was 1.3% and of MSI-H phenotype was 12%. MLH1 methylation and BRAF mutation can exclude 70% of MSI-H cases from gene sequencing.
Clinica Chirurgica 2nd, Dipartimento Scienze Chirurgiche, Oncologiche e Gastroenterologiche, University of Padova, Padua, Italy, Policlinico, VI piano, Via Giustiniani, 2, 35128, Padua, Italy, firstname.lastname@example.org.
This article was published in the following journal.
Name: Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22278153
- DOI: http://dx.doi.org/10.1007/s13277-011-0312-0
Colorectal cancer screening may reduce disease-related mortality by early-stage detection of cancers.
2014 ASCO Annual Meeting, Chicago, IL, USA, 28 May-3 June 2014 Advances in translational and clinical research have improved our understanding of breast and colorectal cancers, and have enabled remark...
Patients with serrated polyposis develop multiple colorectal hyperplastic and/or serrated sessile adenomas/polyps. We investigated the risk of colorectal and other cancers by analyzing data from 64 pa...
Circulating miRNAs are emerging as promising blood-based biomarkers for colorectal and other human cancers; however, technical factors that confound the development of these assays remain poorly under...
Background: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves case...
OBJECTIVES: I. Clinically evaluate members from families with dominantly inherited ataxias and collect blood samples for detailed molecular studies. II. Perform detailed clinical evalua...
Cancer is a DNA disease characterized by the presence of genetics alterations in cancer cells. The recent studies underline that these recurring alterations must be considered as a good ...
Colorectal cancer is the second deadliest among cancers and disproportionately affects African Americans. The Colorectal Cancer Screening Intervention Trial(CCSIT) project has as its goal ...
The purpose of this study is to evaluate the safety of liver resection for metastatic, resectable lesions from colorectal cancers after systemic chemotherapy.
Two major genetic pathways leading to colorectal carcinoma can well be distinguished; the 'suppressor pathway', which is characterized by inactivation of tumor-suppressor genes and the 'mu...
Medical and Biotech [MESH] Definitions
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Detection of drugs that have been abused, overused, or misused, including legal and illegal drugs. Urine screening is the usual method of detection.