Background: Routine genetic testing is costly and not widely available in Asia. A thorough family history remains the most important and cost-effective means of diagnosing hereditary non-polyposis colorectal cancer (HNPCC). However, the usefulness of the Amsterdam criteria for diagnosis of HNPCC in Asians has not been thoroughly evaluated. This study aims to characterize the phenotype of Amster...

BACKGROUND Endometrial cancer is the second most common lesion within hereditary non-polyposis colorectal cancer (HNPCC) syndrome. The importance of the non-HNPCC genetic predisposition to endometrial cancer is unclear, and the familial aggregation of endometrial cancer after exclusion of HNPCC families may offer valuable clues about the involvement of non-HNPCC-related genes. PATIENTS AND ME...

BACKGROUND Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors have previously reported that clinical criteria are not sensitive enough to identify MMR mutation carriers among incident colorectal cancer cases. ...

1.1 Clinical features and tumor spectrum Lynch syndrome (LS) (MIM No. 120435-6), previously known as hereditary nonpolyposis colorectal cancer (HNPCC) (Boland, 2005), is an autosomal dominant disorder caused by germline mutation in one of the DNA mismatch repair (MMR) genes. LS is among the most prevalent cancer syndromes in man and is estimated to account for 1-6% of all colorectal cancers (Ly...

Background: Familial colorectal cancer type X (FCCX) is a subtype of mismatch repair (MMR)-proficient colorectal cancerin which the patients are clinically at risk for Lynch syndrome (LS), a common hereditary cancer predisposing syndrome. In this study, we described a new clinicopathological feature of the condition in central Iran. Materials and Methods: We designed a descriptive, retrospectiv...

Background A patient's medical history and familial cancer history are important information for assessing the risk of hereditary cancer. We have generated a self-administered questionnaire for patients with gynecologic cancer. This pilot study analyzed the usefulness of this questionnaire and the rates of patients that meet the Society of Gynecologic Oncology criteria in ovarian cancer and end...

Ann Rheum Dis September 2010 Vol 69 No 9 1577 1Department of Rheumatology, Jan van Breemen Institute, Amsterdam, The Netherlands 2Department of Rheumatology, VU Free University Medical Center, Amsterdam, The Netherlands Correspondence to Dirkjan van Schaardenburg, Department of Rheumatology, Jan van Breemen Institute, Jan van Breemenstraat 2, Amsterdam 1056 AB, The Netherlands; d.v.schaardenbur...

BACKGROUND Replication errors (RERs) characterise tumours of hereditary non-polyposis colorectal cancer (HNPCC). RER status may therefore improve identification of such families previously diagnosed by family history alone. AIMS To assess RER and HNPCC frequency within a population of colorectal cancer patients and a regional population of family history defined (Amsterdam criteria) HNPCC fam...

The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fud...