Results 11 to 20 of about 23,834 (214)

Association of rare MSH6 variants with familial breast cancer [PDF]

Breast Cancer Research and Treatment, 2010
Germline mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 predispose to Lynch syndrome (also known as hereditary non-polyposis colorectal cancer).
Schutte, Mieke, Renske Olmer, Muhammad Riaz, Labrijn-Marks, Ineke, Ineke Labrijn-Marks, Dennis Dooijes, Vermeulen, Joyce, Ans van den Ouweland, Vermeulen, J., van der Spaa, Linda, Joyce Vermeulen, Jan G. M. Klijn, Schutte, M., Olmer, R., Wasielewski, M., Dooijes, D, Labrijn-Marks, I, van den Ouweland, A., Wasielewski, Marijke, Hanne Meijers-Heijboer, Dooijes, Dennis, van der Spaa, L., Riaz, M., Labrijn-Marks, I., Klijn, Jan G. M., Dooijes, D., Wasielewski, M (Marijke), van der Spaa, L, Meijers-Heijboer, Hanne, Meijers-Heijboer, EJ, Riaz, Muhammad, Klijn, J.G.M., Marijke Wasielewski, Vermeulen, Stijn, Meijers-Heijboer, E.J., Klijn, Jan, Ouweland, A. van den, Mieke Schutte, van den Ouweland, Ans, Linda van der Spaa, Olmer, Renske, Spaa, L. van der   +41 more
core   +16 more sources

Cancer risks for MSH6 pathogenic variant carriers

European Journal of Cancer
Introduction Lynch syndrome (LS) is a hereditary cancer syndrome caused by pathogenic variants (PVs) in DNA mismatch repair genes, including MSH6 . Although MSH6 -associated LS (MSH6 -LS) is known to increase the risk of several cancers, precise risk ...
Wagner, A, Italia, M, Dowty, JG, Bakker, AC, Bajwa – ten Broeke, SW, de Jong, MM, Koops, F, Bleeker, F, Gille, HJP, van Asperen, CJ, Duijkers, FAM, Werf – ’t Lam, ASVD, van Hest, LP, Win, AK, Nielsen, M, Jenkins, MA, Cornips, CC, Letteboer, TGW, Eikenboom, EL, Gomez – Garcia, E   +19 more
core   +8 more sources

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Familial Cancer, 2017
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2.
Morak, Monika;Käsbauer, Sarah;Kerscher, Martina;Laner, Andreas;Nissen, Anke M;Benet-Pagès, Anna;Schackert, Hans K;Keller, Gisela;Massdorf, Trisari;Holinski-Feder, Elke
core   +3 more sources

Immunohistochemical Expression of MSH2 and MSH6 Mismatch Repair Proteins and Their Pathological Correlations in Canine Primary Pulmonary Carcinoma [PDF]

Animals
DNA mismatch repair (MMR) proteins have been investigated as biomarkers in human oncology, but their role in canine PPCs has not been characterized.
Alexandra Morar, Corina Toma, Dragoș Hodor, Claudiu Gal, Ibrahima Mamadou Sall, Marian Taulescu, Cornel Cătoi   +6 more
doaj   +2 more sources

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer [PDF]

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +2 more sources

Prostatic Adenosquamous Carcinoma With a Minute Squamous Component in the Initial Biopsy and Early Liver Metastasis: A Case Report [PDF]

IJU Case Reports, Volume 9, Issue 6, November 2026.
ABSTRACT Introduction We report a case of de novo prostatic adenosquamous carcinoma with a minute squamous component in the initial biopsy and early liver metastasis despite a marked prostate‐specific antigen response. Case Presentation A 72‐year‐old man was diagnosed with locally advanced prostate cancer with nodal and multiple bone metastases ...
Yohei Tsubouchi, Taku Naiki, Aya Naiki‐Ito, Rei Unno, Toshiki Etani, Takashi Nagai, Toshiharu Morikawa, Daiki Ishikawa, Hiroko Suzuki, Takahiro Yasui   +9 more
wiley   +2 more sources

Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

Familial Cancer, 2012
Nearly one-third of the identified MSH6 germline mutations deal with single amino acid substitutions. For an effective genetic counselling it is necessary to clearly elucidate by functional tools the specific sub-processes underlying the mismatch repair (
R. Bracci, F. Bianchi, C. Loretelli, CASCINU, Stefano, Cellerino, Riccardo, Loretelli, Cristian, R. Cellerino, Bracci, Raffaella, L. Belvederesi, Bianchi, Francesca, Belvederesi, Laura   +10 more
core   +4 more sources

The DNA mismatch repair protein, MSH6 is a novel regulator of PD-L1 expression [PDF]

Neoplasia: An International Journal for Oncology Research
Immune checkpoint inhibitors (ICIs) are extremely effective in a subgroup of mismatch repair-deficient (MMRd) cancers, but ∼50% remain resistant to treatment. We have shown for the first time that this may be due to the differential regulation of factors
Kirsten Brooksbank, Charlotte Smith, Eleni Maniati, Amy Gibson, Wai Yiu Tse, Amy Kate Hall, Jun Wang, Tyson V Sharp, Sarah A Martin   +8 more
doaj   +2 more sources

Outcomes of ‘in‐house’ genetic testing within a specialist hereditary colorectal cancer registry [PDF]

Colorectal Disease, Volume 28, Issue 10, October 2026.
Abstract Aims Approximately 5%–10% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways.
Manasawee Srisuttayasathien, Victoria Cuthill, Menna Hawkins, Ashish Sinha, Susan Clark, Andrew Latchford, Kevin J. Monahan   +6 more
wiley   +2 more sources

MSH6 syndrome [PDF]

Hereditary Cancer in Clinical Practice, 2008
Suchy Janina, Lubiński Jan
doaj   +3 more sources