Publications:

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Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine

Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X

Publication Date: 2022-09

Variant appearance in text: MSH6: 3563G>A; S1188N

PubMed Link: 36103400

Variant Present in the following documents:

• CTM2-12-e1015-s002.xlsx, sheet 1

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Temozolomide Treatment Alters Mismatch Repair and Boosts Mutational Burden in Tumor and Blood of Colorectal Cancer Patients.

Cancer Discovery

Crisafulli, Giovanni G; Sartore-Bianchi, Andrea A; Lazzari, Luca L; Pietrantonio, Filippo F; Amatu, Alessio A; Macagno, Marco M; Barault, Ludovic L; Cassingena, Andrea A; Bartolini, Alice A; Luraghi, Paolo P; Mauri, Gianluca G; Battuello, Paolo P; Personeni, Nicola N; Zampino, Maria Giulia MG; Pessei, Valeria V; Vitiello, Pietro Paolo PP; Tosi, Federica F; Idotta, Laura L; Morano, Federica F; Valtorta, Emanuele E; Bonoldi, Emanuela E; Germano, Giovanni G; Di Nicolantonio, Federica F; Marsoni, Silvia S; Siena, Salvatore S; Bardelli, Alberto A

Publication Date: 2022-07-06

Variant appearance in text: MSH6: S1188N

PubMed Link: 35522273

Variant Present in the following documents:

• 1656.pdf
• cd-21-1434_supplementary_figures_and_tables_suppsf1-sf7st1-st3.pdf

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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: Ser1188Asn

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

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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: MSH6: 3563G>A; Ser1188Asn; rs587779272

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: MSH6: 3563G>A; S1188N

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N

Publication Date: 2020-05

Variant appearance in text: MSH6: S1188N

PubMed Link: 31965077

Variant Present in the following documents:

• 41436_2019_Article_736.pdf

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: S1188N

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF

Publication Date: 2016-07-10

Variant appearance in text: MSH6: 3563G>A; S1188N; rs587779272

PubMed Link: 27161972

Variant Present in the following documents:

• supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1

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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Journal Of Biomedical Science

Terui, Hiroko H; Akagi, Kiwamu K; Kawame, Hiroshi H; Yura, Kei K

Publication Date: 2013-04-28

Variant appearance in text: MSH6: S1188N

PubMed Link: 23621914

Variant Present in the following documents:

• Main text

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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation

Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M

Publication Date: 2011-01

Variant appearance in text: MSH6: 3563G>A

PubMed Link: 21120944

Variant Present in the following documents:

• humu0032-0107.pdf

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