Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: MSH6: P462L

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength.

Frontiers In Oncology

Fanale, Daniele D; Corsini, Lidia Rita LR; Brando, Chiara C; Dimino, Alessandra A; Filorizzo, Clarissa C; Magrin, Luigi L; Sciacchitano, Roberta R; Fiorino, Alessia A; Bazan Russo, Tancredi Didier TD; Calò, Valentina V; Iovanna, Juan Lucio JL; Francini, Edoardo E; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2022

Variant appearance in text: MSH6: 1385C>T; Pro462Leu

PubMed Link: 35223509

Variant Present in the following documents:

• Main text
• fonc-12-827822.pdf

View BVdb publication page

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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: 1385C>T; Pro462Leu

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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: 1385C>T

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Mechanisms and therapeutic implications of hypermutation in gliomas.

Nature

Touat, Mehdi M; Li, Yvonne Y YY; Boynton, Adam N AN; Spurr, Liam F LF; Iorgulescu, J Bryan JB; Bohrson, Craig L CL; Cortes-Ciriano, Isidro I; Birzu, Cristina C; Geduldig, Jack E JE; Pelton, Kristine K; Lim-Fat, Mary Jane MJ; Pal, Sangita S; Ferrer-Luna, Ruben R; Ramkissoon, Shakti H SH; Dubois, Frank F; Bellamy, Charlotte C; Currimjee, Naomi N; Bonardi, Juliana J; Qian, Kenin K; Ho, Patricia P; Malinowski, Seth S; Taquet, Leon L; Jones, Robert E RE; Shetty, Aniket A; Chow, Kin-Hoe KH; Sharaf, Radwa R; Pavlick, Dean D; Albacker, Lee A LA; Younan, Nadia N; Baldini, Capucine C; Verreault, Maïté M; Giry, Marine M; Guillerm, Erell E; Ammari, Samy S; Beuvon, Frédéric F; Mokhtari, Karima K; Alentorn, Agusti A; Dehais, Caroline C; Houillier, Caroline C; Laigle-Donadey, Florence F; Psimaras, Dimitri D; Lee, Eudocia Q EQ; Nayak, Lakshmi L; McFaline-Figueroa, J Ricardo JR; Carpentier, Alexandre A; Cornu, Philippe P; Capelle, Laurent L; Mathon, Bertrand B; Barnholtz-Sloan, Jill S JS; Chakravarti, Arnab A; Bi, Wenya Linda WL; Chiocca, E Antonio EA; Fehnel, Katie Pricola KP; Alexandrescu, Sanda S; Chi, Susan N SN; Haas-Kogan, Daphne D; Batchelor, Tracy T TT; Frampton, Garrett M GM; Alexander, Brian M BM; Huang, Raymond Y RY; Ligon, Azra H AH; Coulet, Florence F; Delattre, Jean-Yves JY; Hoang-Xuan, Khê K; Meredith, David M DM; Santagata, Sandro S; Duval, Alex A; Sanson, Marc M; Cherniack, Andrew D AD; Wen, Patrick Y PY; Reardon, David A DA; Marabelle, Aurélien A; Park, Peter J PJ; Idbaih, Ahmed A; Beroukhim, Rameen R; Bandopadhayay, Pratiti P; Bielle, Franck F; Ligon, Keith L KL

Publication Date: 2020-04

Variant appearance in text: MSH6: P462L

PubMed Link: 32322066

Variant Present in the following documents:

• NIHMS1572083-supplement-1572083_Sup_Tab_4.xlsx, sheet 1

View BVdb publication page

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: MSH6: 1385C>T; P462L

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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