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Select item 107978231.

Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup

Melanie Gass, Britta Seebauer, Aline Thommen, Alexandra Fischler, Karl Heinimann

Mol Genet Genomic Med. 2024 Jan; 12(1): e2360. Published online 2024 Jan 19. doi: 10.1002/mgg3.2360

PMCID:: PMC10797823

Article PDF–560K

Select item 98071522.

Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma

Xuekai Pan, Hiroki Mizukami, Yutaro Hara, Takahiro Yamada, Keisuke Yamazaki, Kazuhiro Kudoh, Yuki Takeuchi, Takanori Sasaki, Hanae Kushibiki, Akiko Igawa, Kenichi Hakamada

J Diabetes Investig. 2023 Jan; 14(1): 132–144. Published online 2022 Dec 1. doi: 10.1111/jdi.13929

PMCID:: PMC9807152

Article PDF–2.1M

Select item 95457403.

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome

Emily Rayner, Yvonne Tiersma, Cristina Fortuno, Sandrine van Hees‐Stuivenberg, Mark Drost, Bryony Thompson, Amanda B. Spurdle, Niels de Wind

Hum Mutat. 2022 Sep; 43(9): 1249–1258. Published online 2022 Apr 28. doi: 10.1002/humu.24387

PMCID:: PMC9545740

Article PDF–1.3M

Select item 82548874.

PMS2: a potential prognostic protein marker in oral squamous cell carcinoma

Jordana Medeiros Lira Decker, Osias Vieira de Oliveira Filho, Milena Oliveira Freitas, Isabelle Joyce de Lima Silva-Fernandes, Thinali Sousa Dantas, Clarissa Sales de Paula Campêlo, Maria do Perpétuo Socorro Saldanha Cunha, Paulo Goberlânio de Barros Silva, Fabrício Bitu Sousa

Med Oral Patol Oral Cir Bucal. 2021 Jul; 26(4): e451–e458. Published online 2020 Nov 28. doi: 10.4317/medoral.24303

PMCID:: PMC8254887

Article PDF–2.8M

Select item 66188575.

PMS2 expression decrease causes severe problems in mismatch repair

Mariann Kasela, Minna Nyström, Minttu Kansikas

Hum Mutat. 2019 Jul; 40(7): 904–907. Published online 2019 Apr 18. doi: 10.1002/humu.23756

PMCID:: PMC6618857

Article PDF–521K

Select item 64500756.

Biochemical and Structural Characterization of Two Variants of Uncertain Significance in the PMS2 Gene

Brandon M. D’Arcy, Jessa Blount, Aishwarya Prakash

Hum Mutat. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Hum Mutat. 2019 Apr; 40(4): 458–471. Published online 2019 Jan 30. doi: 10.1002/humu.23708

PMCID:: PMC6450075

Article PDF–899K

Select item 53690127.

PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Wen-Chung Wang, Ya-Ting Lee, Yen-Chein Lai

J Ovarian Res. 2017; 10: 22. Published online 2017 Mar 27. doi: 10.1186/s13048-017-0317-4

PMCID:: PMC5369012

Article PDF–541K

Select item 51100708.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

Julia Vogt, Annekatrin Wernstedt, Tim Ripperger, Brigitte Pabst, Johannes Zschocke, Christian Kratz, Katharina Wimmer

Eur J Hum Genet. 2016 Nov; 24(11): 1598–1604. Published online 2016 Jun 22. doi: 10.1038/ejhg.2016.75

PMCID:: PMC5110070

Article PDF–632K

Select item 50114439.

Identification of a Novel PMS2 Alteration c.505C>G (R169G) In Trans with a PMS2 Pathogenic Mutation in a Patient with Constitutional Mismatch Repair Deficiency

Maureen E. Mork, Ester Borras, Melissa W. Taggart, Amanda Cuddy, Sarah A. Bannon, Y. Nancy You, Patrick M. Lynch, Pedro T. Ramirez, Miguel A. Rodriguez-Bigas, Eduardo Vilar

Fam Cancer. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Fam Cancer. 2016 Oct; 15(4): 587–591. doi: 10.1007/s10689-016-9902-8

PMCID:: PMC5011443

Article PDF–125K

Select item 483486310.

PMS2 monoallelic mutation carriers: the known unknown

McKinsey L. Goodenberger, Brittany C. Thomas, Douglas Riegert-Johnson, C. Richard Boland, Sharon E. Plon, Mark Clendenning, Aung Ko Win, Leigha Senter, Steven M. Lipkin, Zsofia K. Stadler, Finlay A. Macrae, Henry T. Lynch, Jeffrey N. Weitzel, Albert de la Chapelle, Sapna Syngal, Patrick Lynch, Susan Parry, Mark A. Jenkins, Steven Gallinger, Spring Holter, Melyssa Aronson, Polly A. Newcomb, Terrilea Burnett, Loïc Le Marchand, Pavel Pichurin, Heather Hampel, Jonathan P. Terdiman, Karen H. Lu, Stephen Thibodeau, Noralane M. Lindor

Genet Med. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Genet Med. 2016 Jan; 18(1): 13–19. Published online 2015 Apr 9. doi: 10.1038/gim.2015.27

PMCID:: PMC4834863

Article PDF–85K

Select item 459927311.

Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells

Shinichiro Fukuhara, Inik Chang, Yozo Mitsui, Takeshi Chiyomaru, Soichiro Yamamura, Shahana Majid, Sharanjot Saini, Guoren Deng, Ankurpreet Gill, Darryn K. Wong, Hiroaki Shiina, Norio Nonomura, Yun-Fai C. Lau, Rajvir Dahiya, Yuichiro Tanaka

Oncotarget. 2015 Jun 30; 6(18): 16341–16351. Published online 2015 May 6. doi: 10.18632/oncotarget.3854

PMCID:: PMC4599273

Article PDF–2.0M

Select item 433987112.

A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome

M Clendenning, L Senter, H Hampel, K Lagerstedt Robinson, S Sun, D Buchanan, M D Walsh, M Nilbert, J Green, J Potter, A Lindblom, A de la Chapelle

J Med Genet. Author manuscript; available in PMC 2015 Feb 25.

Published in final edited form as: J Med Genet. 2008 Jun; 45(6): 340–345. Published online 2008 Jan 4. doi: 10.1136/jmg.2007.056150

PMCID:: PMC4339871

Article PDF–699K

Select item 364262313.

Human Postmeiotic Segregation 2 Exhibits Biased Repair at Tetranucleotide Microsatellite Sequences

Sandeep N. Shah, Kristin A. Eckert

Cancer Res. Author manuscript; available in PMC 2013 May 3.

Published in final edited form as: Cancer Res. 2009 Feb 1; 69(3): 1143–1149. Published online 2009 Jan 20. doi: 10.1158/0008-5472.CAN-08-3499

PMCID:: PMC3642623

Article PDF–1.5M

Select item 363929914.

Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants – have we been missing anything?

Mark Clendenning, Michael D Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic LeMarchand, Robert Haile, Steve Gallinger, Colorectal Cancer Family Registry, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan

Fam Cancer. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Fam Cancer. 2013 Sep; 12(3): 563–566. doi: 10.1007/s10689-012-9597-4

PMCID:: PMC3639299

Article PDF–992K

Select item 344569815.

Recurrent and founder mutations in the PMS2 gene

Jerneja Tomsic, Leigha Senter, Sandya Liyanarachchi, Mark Clendenning, Cecily P. Vaughn, Mark A. Jenkins, John L. Hopper, Joanne Young, Wade Samowitz, Albert de la Chapelle

Clin Genet. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Clin Genet. 2013 Mar; 83(3): 238–243. Published online 2012 Jun 4. doi: 10.1111/j.1399-0004.2012.01898.x

PMCID:: PMC3445698

Article PDF–320K

Select item 339814416.

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

Annekatrin Wernstedt, Emanuele Valtorta, Franco Armelao, Roberto Togni, Salvatore Girlando, Michael Baudis, Karl Heinimann, Ludwine Messiaen, Noemie Staehli, Johannes Zschocke, Giancarlo Marra, Katharina Wimmer

Genes Chromosomes Cancer. 2012 Sep; 51(9): 819–831. Published online 2012 May 14. doi: 10.1002/gcc.21966

PMCID:: PMC3398144

Article PDF–841K

Select item 334108917.

Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event

Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke, Katharina Wimmer

Hum Mutat. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Hum Mutat. 2010 May; 31(5): 552–560. doi: 10.1002/humu.21223

PMCID:: PMC3341089

Article PDF–1.0M

Select item 303466318.

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Adela Castillejo, Carla Guarinos, Ana Martinez-Canto, Victor-Manuel Barbera, Cecilia Egoavil, Maria-Isabel Castillejo, Lucia Perez-Carbonell, Ana-Beatriz Sanchez-Heras, Angel Segura, Enrique Ochoa, Rafael Lazaro, Clara Ruiz-Ponte, Luis Bujanda, Montserrat Andreu, Antoni Castells, Angel Carracedo, Xavier Llor, Juan Clofent, Cristina Alenda, Artemio Paya, Rodrigo Jover, Jose-Luis Soto

BMC Med Genet. 2011; 12: 12. Published online 2011 Jan 19. doi: 10.1186/1471-2350-12-12

PMCID:: PMC3034663

Article PDF–366K

Select item 292109819.

Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer

Xia Sheng, Heng-Hua Zhou, Xiao-Yan Zhou, Xiang Du, Tai-Ming Zhang, San-Jun Cai, Wei-Qi Sheng, Da-Ren Shi

World J Gastroenterol. 2010 Aug 14; 16(30): 3847–3852. Published online 2010 Aug 14. doi: 10.3748/wjg.v16.i30.3847

PMCID:: PMC2921098

Article PDF–890K

Select item 285698420.

A Human PMS2 Homologue from Aquifex aeolicus Stimulates an ATP-dependent DNA Helicase

Jerome Mauris, Thomas C. Evans, Jr

J Biol Chem. 2010 Apr 9; 285(15): 11087–11092. Published online 2010 Feb 2. doi: 10.1074/jbc.M109.050955

PMCID:: PMC2856984

Article PDF–924K

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