MSH2 c.494A>G ;(p.Y165C)

Variant ID: 2-47637360-A-G

NM_000251.2(MSH2):c.494A>G;(p.Y165C)

This variant was identified in 62 publications

View GRCh38 version.




Publications:


Hereditary cancer syndromes.

World Journal Of Clinical Oncology
Imyanitov, Evgeny N EN; Kuligina, Ekaterina S ES; Sokolenko, Anna P AP; Suspitsin, Evgeny N EN; Yanus, Grigoriy A GA; Iyevleva, Aglaya G AG; Ivantsov, Alexandr O AO; Aleksakhina, Svetlana N SN
Publication Date: 2023-02-24

Variant appearance in text: MSH2: Y165C
PubMed Link: 36908677
Variant Present in the following documents:
  • WJCO-14-40.pdf
View BVdb publication page



Strong Hereditary Predispositions to Colorectal Cancer.

Genes
Hryhorowicz, Szymon S; Kaczmarek-Ryś, Marta M; Lis-Tanaś, Emilia E; Porowski, Jakub J; Szuman, Marcin M; Grot, Natalia N; Kryszczyńska, Alicja A; Paszkowski, Jacek J; Banasiewicz, Tomasz T; Pławski, Andrzej A
Publication Date: 2022-12-10

Variant appearance in text: MSH2: Y165C
PubMed Link: 36553592
Variant Present in the following documents:
  • Main text
  • genes-13-02326.pdf
View BVdb publication page



Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.

Frontiers In Medicine
Nunziato, Marcella M; Di Maggio, Federica F; Pensabene, Matilde M; Esposito, Maria Valeria MV; Starnone, Flavio F; De Angelis, Carmine C; Calabrese, Alessandra A; D'Aiuto, Massimiliano M; Botti, Gerardo G; De Placido, Sabino S; D'Argenio, Valeria V; Salvatore, Francesco F
Publication Date: 2022

Variant appearance in text: MSH2: Y165C
PubMed Link: 36035419
Variant Present in the following documents:
  • fmed-09-894358.pdf
View BVdb publication page



Human Variation in DNA Repair, Immune Function, and Cancer Risk.

Frontiers In Immunology
Cheong, Ana A; Nagel, Zachary D ZD
Publication Date: 2022

Variant appearance in text: MSH2: Y165C
PubMed Link: 35935942
Variant Present in the following documents:
  • Main text
  • fimmu-13-899574.pdf
View BVdb publication page



Target-Based Small Molecule Drug Discovery for Colorectal Cancer: A Review of Molecular Pathways and In Silico Studies.

Biomolecules
Moshawih, Said S; Lim, Ai Fern AF; Ardianto, Chrismawan C; Goh, Khang Wen KW; Kifli, Nurolaini N; Goh, Hui Poh HP; Jarrar, Qais Q; Ming, Long Chiau LC
Publication Date: 2022-06-23

Variant appearance in text: MSH2: Y165C
PubMed Link: 35883434
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00878.pdf
View BVdb publication page



Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals Of Coloproctology
Kim, Jin Cheon JC; Bodmer, Walter F WF
Publication Date: 2021-12

Variant appearance in text: MSH2: Y165C
PubMed Link: 34961301
Variant Present in the following documents:
  • Main text
  • ac-2021-00878-0125.pdf
View BVdb publication page



Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals Of Coloproctology
Kim, Jin Cheon JC; Bodmer, Walter F WF
Publication Date: 2021-12

Variant appearance in text: MSH2: Y165C
PubMed Link: 34961301
Variant Present in the following documents:
  • Main text
  • ac-2021-00878-0125.pdf
View BVdb publication page



Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,
Publication Date: 2022-03

Variant appearance in text: MSH2: 494A>G; Y165C
PubMed Link: 34906453
Variant Present in the following documents:
  • mmc1.xlsx, sheet 3
View BVdb publication page



Roles for the 8-Oxoguanine DNA Repair System in Protecting Telomeres From Oxidative Stress.

Frontiers In Cell And Developmental Biology
De Rosa, Mariarosaria M; Johnson, Samuel A SA; Opresko, Patricia L PL
Publication Date: 2021

Variant appearance in text: MSH2: Y165C
PubMed Link: 34869348
Variant Present in the following documents:
  • Main text
  • fcell-09-758402.pdf
View BVdb publication page



Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.

Esmo Open
Bono, M M; Fanale, D D; Incorvaia, L L; Cancelliere, D D; Fiorino, A A; Calò, V V; Dimino, A A; Filorizzo, C C; Corsini, L R LR; Brando, C C; Madonia, G G; Cucinella, A A; Scalia, R R; Barraco, N N; Guadagni, F F; Pedone, E E; Badalamenti, G G; Russo, A A; Bazan, V V
Publication Date: 2021-08

Variant appearance in text: MSH2: 494A>G; Tyr165Cys
PubMed Link: 34371384
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



From APC to the genetics of hereditary and familial colon cancer syndromes.

Human Molecular Genetics
Olkinuora, Alisa P AP; Peltomäki, Päivi T PT; Aaltonen, Lauri A LA; Rajamäki, Kristiina K
Publication Date: 2021-10-01

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 34329396
Variant Present in the following documents:
  • Main text
  • ddab208.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH2: 494A>G; Tyr165Cys
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



MUTYH as an Emerging Predictive Biomarker in Ovarian Cancer.

Diagnostics (Basel, Switzerland)
Hutchcraft, Megan L ML; Gallion, Holly H HH; Kolesar, Jill M JM
Publication Date: 2021-01-06

Variant appearance in text: MSH2: Y165C
PubMed Link: 33419231
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00084.pdf
View BVdb publication page



Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Jnci Cancer Spectrum
Klek, Stefan S; Heald, Brandie B; Milinovich, Alex A; Ni, Ying Y; Abraham, Jame J; Mahdi, Haider H; Estfan, Bassam B; Khorana, Alok A AA; Bolwell, Brian J BJ; Grivas, Petros P; Sohal, Davendra P S DPS; Funchain, Pauline P
Publication Date: 2020-06

Variant appearance in text: MSH2: Y165C
PubMed Link: 32596633
Variant Present in the following documents:
  • Main text
  • pkaa018.pdf
View BVdb publication page



Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

Non-Coding Rna Research
Abduljaleel, Zainularifeen Z; Athar, Mohammad M; Al-Allaf, Faisal A FA; Al-Dehlawi, Saied S; Vazquez, Jose R JR
Publication Date: 2019-12

Variant appearance in text: MSH2: 494A>G; Y165C
PubMed Link: 32072083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.

Npj Genomic Medicine
AlHarthi, Fawz S FS; Qari, Alya A; Edress, Alaa A; Abedalthagafi, Malak M
Publication Date: 2020

Variant appearance in text: MSH2: Y165C
PubMed Link: 32025336
Variant Present in the following documents:
  • 41525_2019_Article_110.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: Y165C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04

Variant appearance in text: MSH2: 494A>G; Tyr165Cys
PubMed Link: 30833417
Variant Present in the following documents:
  • Main text
  • MCS003681Thi.pdf
View BVdb publication page



Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

The Journal Of Pathology
Valle, Laura L; Vilar, Eduardo E; Tavtigian, Sean V SV; Stoffel, Elena M EM
Publication Date: 2019-04

Variant appearance in text: MSH2: Y165C
PubMed Link: 30584801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MSH2: Y165C
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s008.xlsx, sheet 1
View BVdb publication page



Association of DNA repair genes polymorphisms and mutations with increased risk of head and neck cancer: a review.

Medical Oncology (Northwood, London, England)
Dylawerska, Agata A; Barczak, Wojciech W; Wegner, Anna A; Golusinski, Wojciech W; Suchorska, Wiktoria Maria WM
Publication Date: 2017-11-15

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 29143133
Variant Present in the following documents:
  • Main text
  • 12032_2017_Article_1057.pdf
View BVdb publication page



Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chaffee, Kari G KG; Oberg, Ann L AL; McWilliams, Robert R RR; Majithia, Neil N; Allen, Brian A BA; Kidd, John J; Singh, Nanda N; Hartman, Anne-Renee AR; Wenstrup, Richard J RJ; Petersen, Gloria M GM
Publication Date: 2018-01

Variant appearance in text: MSH2: 494A>G; Y165C
PubMed Link: 28726808
Variant Present in the following documents:
  • Main text
View BVdb publication page



Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.

Free Radical Biology & Medicine
Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS
Publication Date: 2017-06

Variant appearance in text: MSH2: Y165C
PubMed Link: 28087410
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between OGG1 Ser326Cys polymorphism and risk of upper aero-digestive tract and gastrointestinal cancers: a meta-analysis.

Springerplus
Das, Sambuddha S; Nath, Sayantan S; Bhowmik, Aditi A; Ghosh, Sankar Kumar SK; Choudhury, Yashmin Y
Publication Date: 2016

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 27026921
Variant Present in the following documents:
  • 40064_2016_Article_1858.pdf
View BVdb publication page



Diagnostic Approach to Hereditary Colorectal Cancer Syndromes.

Clinics In Colon And Rectal Surgery
Kalady, Matthew F MF; Heald, Brandie B
Publication Date: 2015-12

Variant appearance in text: MSH2: Y165C
PubMed Link: 26664327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
View BVdb publication page



ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

The American Journal Of Gastroenterology
Syngal, Sapna S; Brand, Randall E RE; Church, James M JM; Giardiello, Francis M FM; Hampel, Heather L HL; Burt, Randall W RW; ,
Publication Date: 2015-02

Variant appearance in text: MSH2: Y165C
PubMed Link: 25645574
Variant Present in the following documents:
  • Main text
View BVdb publication page



Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Inra, Jennifer A JA; Steyerberg, Ewout W EW; Grover, Shilpa S; McFarland, Ashley A; Syngal, Sapna S; Kastrinos, Fay F
Publication Date: 2015-10

Variant appearance in text: MSH2: Y165C
PubMed Link: 25590978
Variant Present in the following documents:
  • nihms757013.pdf
View BVdb publication page



The evolution of colorectal cancer genetics-Part 1: from discovery to practice.

Journal Of Gastrointestinal Oncology
Schlussel, Andrew T AT; Gagliano, Ronald A RA; Seto-Donlon, Susan S; Eggerding, Faye F; Donlon, Timothy T; Berenberg, Jeffrey J; Lynch, Henry T HT
Publication Date: 2014-10

Variant appearance in text: MSH2: Y165C
PubMed Link: 25276405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition to colorectal cancer: where we stand and future perspectives.

World Journal Of Gastroenterology
Valle, Laura L
Publication Date: 2014-08-07

Variant appearance in text: MSH2: Y165C
PubMed Link: 25110415
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Gastroenterology And Hepatology From Bed To Bench
Kashfi, Seyed Mohammad Hossein SM; Golmohammadi, Mina M; Behboudi, Faeghe F; Nazemalhosseini-Mojarad, Ehsan E; Zali, Mohammad Reza MR
Publication Date: 2013

Variant appearance in text: MSH2: Y165C
PubMed Link: 24834277
Variant Present in the following documents:
  • Main text
  • GHFBB-6-S001.pdf
View BVdb publication page



Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Kurian, Allison W AW; Hare, Emily E EE; Mills, Meredith A MA; Kingham, Kerry E KE; McPherson, Lisa L; Whittemore, Alice S AS; McGuire, Valerie V; Ladabaum, Uri U; Kobayashi, Yuya Y; Lincoln, Stephen E SE; Cargill, Michele M; Ford, James M JM
Publication Date: 2014-07-01

Variant appearance in text: MSH2: 494A>G; Tyr165Cys
PubMed Link: 24733792
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: MSH2: Y165C
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Biallelic MUTYH mutations can mimic Lynch syndrome.

European Journal Of Human Genetics : Ejhg
Morak, Monika M; Heidenreich, Barbara B; Keller, Gisela G; Hampel, Heather H; Laner, Andreas A; de la Chapelle, Albert A; Holinski-Feder, Elke E
Publication Date: 2014-11

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 24518836
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial colorectal cancer, beyond Lynch syndrome.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
Stoffel, Elena M EM; Kastrinos, Fay F
Publication Date: 2014-07

Variant appearance in text: MSH2: Y165C
PubMed Link: 23962553
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of patients at risk for hereditary colorectal cancer.

Clinics In Colon And Rectal Surgery
Mishra, Nitin N; Hall, Jason J
Publication Date: 2012-06

Variant appearance in text: MSH2: Y165C
PubMed Link: 23730221
Variant Present in the following documents:
  • Main text
View BVdb publication page



General aspects of colorectal cancer.

Isrn Oncology
Centelles, Josep J JJ
Publication Date: 2012

Variant appearance in text: MSH2: Y165C
PubMed Link: 23209942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Colorectal carcinoma: Pathologic aspects.

Journal Of Gastrointestinal Oncology
Fleming, Matthew M; Ravula, Sreelakshmi S; Tatishchev, Sergei F SF; Wang, Hanlin L HL
Publication Date: 2012-09

Variant appearance in text: MSH2: Y165C
PubMed Link: 22943008
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Frontiers In Oncology
Venesio, Tiziana T; Balsamo, Antonella A; D'Agostino, Vito G VG; Ranzani, Guglielmina N GN
Publication Date: 2012

Variant appearance in text: MSH2: Y165C
PubMed Link: 22876359
Variant Present in the following documents:
  • Main text
  • fonc-02-00083.pdf
View BVdb publication page



Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American Journal Of Human Genetics
Johnston, Jennifer J JJ; Rubinstein, Wendy S WS; Facio, Flavia M FM; Ng, David D; Singh, Larry N LN; Teer, Jamie K JK; Mullikin, James C JC; Biesecker, Leslie G LG
Publication Date: 2012-07-13

Variant appearance in text: MSH2: 494A>G; Tyr165Cys
PubMed Link: 22703879
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited colorectal cancer syndromes.

Cancer Journal (Sudbury, Mass.)
Kastrinos, Fay F; Syngal, Sapna S
Publication Date: 2011

Variant appearance in text: MSH2: Y165C
PubMed Link: 22157284
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics, cytogenetics, and epigenetics of colorectal cancer.

Journal Of Biomedicine & Biotechnology
Migliore, Lucia L; Migheli, Francesca F; Spisni, Roberto R; Coppedè, Fabio F
Publication Date: 2011

Variant appearance in text: MSH2: Tyr165Cys
PubMed Link: 21490705
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lower gastrointestinal tract cancer predisposition syndromes.

Hematology/Oncology Clinics Of North America
Shah, Neel B NB; Lindor, Noralane M NM
Publication Date: 2010-12

Variant appearance in text: MSH2: Y165C
PubMed Link: 21075290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.

Familial Cancer
Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA
Publication Date: 2011-03

Variant appearance in text: MSH2: Y165C
PubMed Link: 21061173
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Gut
Woods, M O MO; Younghusband, H B HB; Parfrey, P S PS; Gallinger, S S; McLaughlin, J J; Dicks, E E; Stuckless, S S; Pollett, A A; Bapat, B B; Mrkonjic, M M; de la Chapelle, A A; Clendenning, M M; Thibodeau, S N SN; Simms, M M; Dohey, A A; Williams, P P; Robb, D D; Searle, C C; Green, J S JS; Green, R C RC
Publication Date: 2010-10

Variant appearance in text:
PubMed Link: 20682701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific expression of APC in adenomatous polyposis families.

Gastroenterology
Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G
Publication Date: 2010-08

Variant appearance in text: MSH2: Y165C
PubMed Link: 20434453
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Cook-Deegan, Robert R; DeRienzo, Christopher C; Carbone, Julia J; Chandrasekharan, Subhashini S; Heaney, Christopher C; Conover, Christopher C
Publication Date: 2010-04

Variant appearance in text: MSH2: Y165C
PubMed Link: 20393305
Variant Present in the following documents:
  • Main text
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Frequency of the Common MYH Mutations (G382D and Y165C) in MMR Mutation Positive and Negative HNPCC Patients.

Hereditary Cancer In Clinical Practice
Ashton, Katie A KA; Meldrum, Cliff J CJ; McPhillips, Mary L ML; Kairupan, Carla F CF; Scott, Rodney J RJ
Publication Date: 2005-05-15

Variant appearance in text: MSH2: Y165C
PubMed Link: 20223032
Variant Present in the following documents:
  • Main text
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MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer.

Hereditary Cancer In Clinical Practice
Stormorken, Astrid A; Heintz, Karen-Marie KM; Andresen, Per Arne PA; Hovig, Eivind E; Møller, Pål P
Publication Date: 2006-05-15

Variant appearance in text: MSH2: Y165C
PubMed Link: 20223013
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular origins of cancer: Molecular basis of colorectal cancer.

The New England Journal Of Medicine
Markowitz, Sanford D SD; Bertagnolli, Monica M MM
Publication Date: 2009-12-17

Variant appearance in text: MSH2: Y165C
PubMed Link: 20018966
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited colorectal cancer syndromes.

Clinics In Colon And Rectal Surgery
Ellis, C Neal CN
Publication Date: 2005-08

Variant appearance in text: MSH2: Y165C
PubMed Link: 20011298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Dna Repair
Kundu, Sucharita S; Brinkmeyer, Megan K MK; Livingston, Alison L AL; David, Sheila S SS
Publication Date: 2009-12-03

Variant appearance in text: MSH2: Y165C
PubMed Link: 19836313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing for hereditary colorectal cancer.

Surgical Oncology Clinics Of North America
Hampel, Heather H
Publication Date: 2009-10

Variant appearance in text: MSH2: Y165C
PubMed Link: 19793575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk.

Diseases Of The Colon And Rectum
Cleary, Sean P SP; Kim, Hyeja H; Croitoru, Marina E ME; Redston, Mark M; Knight, Julia A JA; Gallinger, Steven S; Gryfe, Robert R
Publication Date: 2008-10

Variant appearance in text: MSH2: Y165C
PubMed Link: 18612690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathological features of colorectal carcinomas in MYH-associated polyposis.

Histopathology
O'Shea, A M AM; Cleary, S P SP; Croitoru, M A MA; Kim, H H; Berk, T T; Monga, N N; Riddell, R H RH; Pollett, A A; Gallinger, S S
Publication Date: 2008-08

Variant appearance in text: MSH2: Y165C
PubMed Link: 18564191
Variant Present in the following documents:
  • Main text
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The signatures of autozygosity among patients with colorectal cancer.

Cancer Research
Bacolod, Manny D MD; Schemmann, Gunter S GS; Wang, Shuang S; Shattock, Richard R; Giardina, Sarah F SF; Zeng, Zhaoshi Z; Shia, Jinru J; Stengel, Robert F RF; Gerry, Norman N; Hoh, Josephine J; Kirchhoff, Tomas T; Gold, Bert B; Christman, Michael F MF; Offit, Kenneth K; Gerald, William L WL; Notterman, Daniel A DA; Ott, Jurg J; Paty, Philip B PB; Barany, Francis F
Publication Date: 2008-04-15

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PubMed Link: 18375840
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Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients.

Gastroenterology
Balaguer, Francesc F; Balmaña, Judith J; Castellví-Bel, Sergi S; Steyerberg, Ewout W EW; Andreu, Montserrat M; Llor, Xavier X; Jover, Rodrigo R; Syngal, Sapna S; Castells, Antoni A; ,
Publication Date: 2008-01

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PubMed Link: 18061181
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Recently identified colon cancer predispositions: MYH and MSH6 mutations.

Seminars In Oncology
Kastrinos, Fay F; Syngal, Sapna S
Publication Date: 2007-10

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PubMed Link: 17920897
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Implication of MYH in colorectal polyposis.

Annals Of Surgery
Lefevre, Jérémie H JH; Rodrigue, Christelle M CM; Mourra, Najat N; Bennis, Malika M; Flejou, Jean-François JF; Parc, Rolland R; Tiret, Emmanuel E; Gespach, Christian C; Parc, Yann R YR
Publication Date: 2006-12

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PubMed Link: 17122612
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The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

British Journal Of Cancer
Colebatch, A A; Hitchins, M M; Williams, R R; Meagher, A A; Hawkins, N J NJ; Ward, R L RL
Publication Date: 2006-11-06

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PubMed Link: 17031395
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