Results 21 to 30 of about 16,555 (261)

A rare case of Turcot syndrome [PDF]

Journal of Clinical and Scientific Research, 2015
Turcot’s syndrome is a rare genetic disorder clinically characterised by concomitant occurrence of primary brain tumour and colorectal polyposis. It is commonly seen in association with two other syndromes, namely, hereditary nonpolyposis colorectal ...
Sarma YS, Bhaskararao G, Sriharibabu M, Chakravarthy DJK   +3 more
doaj   +1 more source

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Baretton, G., Daum, J., Gross, M., Holinski-Feder, E., Kopp, R., Lohse, P., Muders, M., Mussack, T., Müller-Koch, Y., Schiemann, Uwe   +9 more
core   +1 more source

Association between family history and mismatch repair in colorectal cancer [PDF]

, 2005
BACKGROUND AND AIMS: Germline mutations in mismatch repair (MMR) genes cause a greatly increased risk of cancer of the gastrointestinal and female reproductive tracts (hereditary non-polyposis colorectal cancer (HNPCC)).
Bell, S.M., Bishop, D.T., Cawkwell, L., Coggins, R.P., Crockford, G.P., Finan, P.J., Quirke, P.   +6 more
core   +2 more sources

Expression of the DNA mismatch repair proteins hMLH1 and hPMS2 in normal human tissues. [PDF]

, 1997
hMLH1 and hPMS2 are part of the DNA mismatch repair complex. Mutations in these genes have been linked to hereditary non-polyposis colon cancer; they also occur in a variety of sporadic cancers. Western blot analysis and immunohistochemistry demonstrated
Aebi, S, Christen, RD, Fink, D, Howell, SB, Kim, HK, Nebel, S, Zheng, H   +6 more
core   +1 more source

Mutation prediction models in Lynch syndrome: evaluation in a clinical genetic setting [PDF]

, 2009
Background/aims: The identification of Lynch syndrome is hampered by the absence of specific diagnostic features and underutilization of genetic testing.
Kuipers, E.J. (Ernst), Leerdam, M.E. (Monique) van, Ramsoekh, D. (Dewkoemar), Steyerberg, E.W. (Ewout), Wagner, A. (Anja)   +4 more
core   +10 more sources

Advanced Colon Cancer Before the Age of 20 Years: A Case for Extension of the Current Colonscopy Surveillance Guidelines in Hereditary Nonpolyposis Colorectal Cancer Syndrome

Canadian Journal of Gastroenterology, 2004
BACKGROUND: Hereditary nonpolyposis colorectal cancer (HNPCC) currently accounts for between 2% to 6% of all colorectal adenocarcinomas. Controversies exist regarding the current guidelines for colonoscopic screening for colon cancer.
Victor K Wong, Eric M Yoshida, Anthony G Ryan, Stephen GF Ho, Baljinder Salh   +4 more
doaj   +1 more source

Role of APC and DNA mismatch repair genes in the development of colorectal cancers

Molecular Cancer, 2003
Colorectal cancer is the third most common cause of cancer-related death in both men and women in the western hemisphere. According to the American Cancer Society, an estimated 105,500 new cases of colon cancer with 57,100 deaths will occur in the U.S ...
Roy Deodutta, Narayan Satya
doaj   +1 more source

Differential diagnosis of small bowel occlusions

Clinical Management Issues, 2009
Hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is a common autosomal dominant syndrome characterized by early age at onset, and microsatellite instability (MSI).
Paolo Ghiringhelli
doaj   +1 more source

Annual outpatient hysteroscopy and endometrial sampling (OHES) in HNPCC/Lynch syndrome (LS) [PDF]

, 2012
Background: LS women have a 40-60 % lifetime risk of endometrial cancer (EC). Most international guidelines recommend screening. However, data on efficacy are limited.
Adam N. Rosenthal, Ahmed Abdelraheim, C Gulumser, C Kremer, Carol Brunell, CL Trimble, E Saridogan, EB Pasqualotto, Elizabeth Benjamin, Ertan Saridogan, F Lecuru, F Lecuru, FE Rijcken, FP Dijkhuizen, HF Vasen, HF Vasen, HF Vasen, HF Vasen, I Dove-Edwin, I Jacobs, Ian Jacobs, JK Gupta, JV Lacey Jr, K Chu, K Elmasry, K Kerlikowske, L Renkonen-Sinisalo, LH Gerritzen, Lucy Side, M Aarnio, M Dimitraki, Michelle Johnson, MM Tahir, NJ Wood, NM Lindor, NP Baxter, Ranjit Manchanda, RJ Zaino, RR Broaddus, Sue Gessler, TJ Clark, Usha Menon, YM Hendriks, YM Hendriks   +43 more
core   +1 more source

Historical review of Lynch syndrome

Journal of Coloproctology, 2013
Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. Currently, these two nomenclatures each have their unique definitions and are no longer used interchangeably.
Andrew I. Wolf, Adam H. Buchanan, Linda M. Farkas   +2 more
doaj   +1 more source