Results 241 to 250 of about 42,200 (256)

MSH2 splice site mutation and endometrial cancer

International Journal of Gynecological Cancer, 2006
Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs.
Bianchi, F., Rosati, S., Belvederesi, L., Loretelli, C., Catalani, R., Mandolesi, A., Bracci, R., Bearzi, I., Porfiri, E., Cellerino, R.   +9 more
openaire   +2 more sources

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

Clinical Genetics, 2007
Hereditary non‐polyposis colorectal cancer (HNPCC) is caused by inactivating mutations of DNA mismatch repair genes. Large genomic rearrangements in these genes have been increasingly recognized as important causes of HNPCC. Using multiplex ligation‐dependent probe amplification, we identified three MSH2 deletions in Italian patients with HNPCC ...
Stella, A, Surdo, N C, Lastella, P, Barana, D, Oliani, C, Tibiletti, M G, Viel, A, Natale, C, Piepoli, A, Marra, Giancarlo, Guanti, G   +10 more
openaire   +4 more sources

Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAM–MSH2 fusion

Histopathology, 2016
AimsImmunohistochemistry for mismatch repair (MMR) proteins is being increasingly used to examine MMR status in tumours. The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization.Methods and resultsHistologically, the colon cancer was diagnosed as ...
Shigeki, Sekine, Reiko, Ogawa, Shinya, Saito, Mineko, Ushiama, Dai, Shida, Takeshi, Nakajima, Hirokazu, Taniguchi, Nobuyoshi, Hiraoka, Teruhiko, Yoshida, Kokichi, Sugano   +9 more
openaire   +2 more sources

MSH2 sequence variations and inherited colorectal cancer susceptibility

European Journal of Cancer, 1996
THE IDENTIFICATION of germline mutations causing colorectal cancer susceptibility is important for understanding the genetic pathogenesis of this common cancer and may enhance the management of affected patients and relatives. Therefore, we read with interest the article of Hall and associates [l] concerning the significance of the intronic splice ...
Froggatt, N. J., Joyce, J. A., Evans, D. G.R., Lunt, P. W., Koch, D. J., Ponder, B. J., Maher, E. R.   +6 more
openaire   +1 more source

Mechanisms of pathogenicity in humanMSH2missense mutants

Human Mutation, 2008
The human mismatch repair (MMR) gene MSH2 is the second most frequently mutated hereditary nonpolyposis colorectal cancer (HNPCC) susceptibility locus. Given that missense mutations account for 17% of all identified alterations in this gene, the study of their pathogenicity is of increasing importance.
Ollila, S, Dermadi Bebek, D, Jiricny, J, Nyström, M   +3 more
openaire   +2 more sources

Adrenocortical adenocarcinoma in an MSH2 carrier: Coincidence or causal relation?

Human Pathology, 2000
A woman is described who developed an ovarian adenocarcinoma, 3 metachronous colorectal adenocarcinomas, and a primary adrenocortical adenocarcinoma. Genetic investigation of the mismatch repair genes MLH1 and MSH2 showed a germline mutation in MSH2.
Berends, M J, Cats, A, Hollema, H, Karrenbeld, A, Beentjes, J A, Sijmons, R H, Mensink, R G, Hofstra, R M, Verschueren, R C, Kleibeuker, J H   +9 more
openaire   +2 more sources

Breast cancer in an MSH2 gene mutation carrier

Human Pathology, 2005
A 49-year-old woman presented with breast cancer. She is a member of a family with the hereditary nonpolyposis colorectal cancer syndrome for which a 2-base pair deletion in exon 11 of the mismatch repair gene MSH2 (c1705_1706 delGA) had been identified. Breast cancer is rare in the hereditary nonpolyposis colorectal cancer syndrome.
Westenend, PJ, Schutte, R, Hoogmans, MMCP (Monique), Wagner, Anja, Dinjens, Winand   +4 more
openaire   +2 more sources

MSH2

1998
Tak W. Mak, Josef Penninger, John Roder, Janet Rossant, Mary Saunders   +4 more
openaire   +1 more source

MSH2–6

2008
openaire   +1 more source

MSH2–6

2011
openaire   +1 more source