Publications:

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FGF19 promotes cell autophagy and cisplatin chemoresistance by activating MAPK signaling in ovarian cancer.

Peerj

Zhu, Wei W; Huang, Meiyuan M; Thakur, Abhimanyu A; Yan, Yuanliang Y; Wu, Xiaoying X

Publication Date: 2023

Variant appearance in text: MSH2: 972G>C; Gln324His

PubMed Link: 36751636

Variant Present in the following documents:

• peerj-11-14827-s010.xlsx, sheet 1

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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: 972G>C; Q324H

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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MUTYH: Not just polyposis.

World Journal Of Clinical Oncology

Curia, Maria Cristina MC; Catalano, Teresa T; Aceto, Gitana Maria GM

Publication Date: 2020-07-24

Variant appearance in text: MSH2: 972G>C; Q324H

PubMed Link: 32821650

Variant Present in the following documents:

• Main text
• WJCO-11-428.pdf

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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: Q324H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer

Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C

Publication Date: 2019

Variant appearance in text: MSH2: Gln324His

PubMed Link: 31031852

Variant Present in the following documents:

• jcav10p1417.pdf

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: MSH2: 972G>C; Q324H

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

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Polymorphisms of DNA repair genes are associated with colorectal cancer in patients with Lynch syndrome.

Molecular Genetics & Genomic Medicine

Kamiza, Abram B AB; Hsieh, Ling-Ling LL; Tang, Reiping R; Chien, Huei-Tzu HT; Lai, Chih-Hsiung CH; Chiu, Li-Ling LL; Lo, Tsai-Ping TP; Hung, Kuan-Yi KY; You, Jeng-Fu JF; Wang, Wen-Chang WC; Hsiung, Chao A CA; Yeh, Chih-Ching CC

Publication Date: 2018-04-17

Variant appearance in text: MSH2: Gln324His

PubMed Link: 29664240

Variant Present in the following documents:

• Main text
• MGG3-6-533.pdf

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Modulation of Colorectal Cancer Risk by Polymorphisms in 51Gln/His, 64Ile/Val, and 148Asp/Glu of APEX Gene; 23Gly/Ala of XPA Gene; and 689Ser/Arg of ERCC4 Gene.

Gastroenterology Research And Practice

Dziki, L L; Dziki, A A; Mik, M M; Majsterek, I I; Kabzinski, J J

Publication Date: 2017

Variant appearance in text: MSH2: Gln324His

PubMed Link: 28386271

Variant Present in the following documents:

• GRP2017-3840243.pdf

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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: Q324H

PubMed Link: 28087410

Variant Present in the following documents:

• Main text

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Association between the OGG1 Ser326Cys Polymorphism and Cancer Risk: Evidence from 152 Case-Control Studies.

Journal Of Cancer

Zou, Hua H; Li, Qing Q; Xia, Wei W; Liu, Yong Y; Wei, Xi X; Wang, Dong D

Publication Date: 2016

Variant appearance in text: MSH2: Gln324His

PubMed Link: 27390603

Variant Present in the following documents:

• jcav07p1273.pdf

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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: Gln324His

PubMed Link: 24834277

Variant Present in the following documents:

• GHFBB-6-S001.pdf

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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: Q324H

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1
• pone.0094554.s002.xlsx, sheet 3

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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: Q324H

PubMed Link: 19836313

Variant Present in the following documents:

• Main text

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: MSH2: Q324H

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

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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

Variant appearance in text: MSH2: Q324H

PubMed Link: 17122612

Variant Present in the following documents:

• Main text

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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

Variant appearance in text: MSH2: Q324H

PubMed Link: 17031395

Variant Present in the following documents:

• Main text
• 95-6603421a.pdf

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