Results 81 to 90 of about 10,129 (212)

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma

Pigment Cell &Melanoma Research, Volume 38, Issue 5, September 2025.
Germline exome sequencing of 106 Finnish patients with UM, considered at higher risk for genetic cancer predisposition, identified pathogenic or likely pathogenic variants associated with varying risk of malignancies in 16 patients (15%). Six patients (6%) carried multiple variants and had a median diagnosis age of 51, compared to 60 in the full cohort
Pauliina E. Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz‐Tuikkanen, Reetta‐Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T. Al‐Jamal, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies

, 2005
Includes bibliographical references.Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa.
Holm, Hannes
core  

Surveillance for hereditary nonpolyposis colorectal cancer - A long-term study on 114 families

, 2002
PURPOSE: Hereditary nonpolyposis colorectal cancer is caused by germline mutations in DNA mismatch repair genes. Mutation carriers have a 60 to 85 percent risk of developing colorectal cancer.
Kleibeuker, J.H., Kleibeuker, JH, Menko, F.H., Vos tot Nederveen Cappel, W.H. de, Taal, B.G., Menko, FH, Vasen, H.F., Griffioen, G, Vasen, HF, Cappel, WHDTN, Nagengast, F.M., Nagengast, FM, Taal, BG, Griffioen, G.   +13 more
core   +1 more source

HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (LYNCH SYNDROME) PADA WANITA UMUR 16 TAHUN

Majalah Kedokteran Andalas, 2011
AbstrakKanker kolorektal menduduki peringkat ketiga jenis kanker yang paling sering terjadi di dunia. Sekitar 3% kasus kanker kolorektal merupakan jenis hereditary non polyposis colorectal cancer (HNPCC)/Lynch syndrome, yang sering muncul pada usia muda.
Asril Zahari, Sudiyatmo Sudiyatmo
doaj   +1 more source

The story of hereditary nonpolyposis colorectal cancer: celebrating the spirit of investigation. [PDF]

IGIE, 2023
Lynch PM, Ge PS.
europepmc   +1 more source

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

Hereditary Cancer in Clinical Practice, 2019
Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in expert centres.
Toni T. Seppälä, Aysel Ahadova, Mev Dominguez-Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian Sampson, Rodney Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski-Feder, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John-Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H. Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H. de Vos tot Nederveen Cappel, Hans Vasen, Monika Morak, Verena Steinke-Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capella, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane Lindor, Ian Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka-Pekka Mecklin, Mette Kalager, Pål Møller   +56 more
doaj   +1 more source

Reduced expression of alanyl aminopeptidase is a robust biomarker of non-familial adenomatous polyposis and non-hereditary nonpolyposis colorectal cancer syndrome early-onset colorectal cancer. [PDF]

Cancer Med, 2023
Ha YJ, Shin YJ, Tak KH, Park JL, Kim JH, Lee JL, Yoon YS, Kim CW, Kim SY, Kim JC.   +9 more
europepmc   +1 more source

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

The Application of Clinical Genetics, 2014
Stephanie A Cohen,1 Anna Leininger2 1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA Abstract: Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for
Cohen SA, Leininger A
doaj  

Prediction of hereditary nonpolyposis colorectal cancer using mRNA MSH2 quantitative and the correlation with nonmodifiable factor. [PDF]

World J Gastrointest Pathophysiol, 2021
Tedjasaputra TR, Hatta M, Massi MN, Natzir R, Bukhari A, Masadah R, Parewangi ML, Prihantono P, Nariswati R, Tedjasaputra V.   +9 more
europepmc   +1 more source

Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report

World Journal of Surgical Oncology, 2009
Background MLH1 is one of six known genes responsible for DNA mismatch repair (MMR), whose inactivation leads to HNPCC. It is important to develop genotype-phenotype correlations for HNPCC, as is being done for other hereditary cancer syndromes, in order
Yee Herman, Reich Elsa W, Huang William C, Moore Harvey G, Valenzuela Cristian D, Ostrer Harry, Pachter H Leon   +6 more
doaj   +1 more source