Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MSH2: 1042C>T; Gln348Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: MSH2: 1042C>T; Gln348Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: MSH2: Q348*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: MSH2: Q348*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer

Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y

Publication Date: 2021-01-09

Variant appearance in text: MSH2: 1042C>T; Gln348Ter

PubMed Link: 33422027

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7771.pdf

View BVdb publication page

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Synchronous endometrial and ovarian cancer in Lynch syndrome with a MSH2 germline mutation: A case report.

Molecular And Clinical Oncology

Takeda, Takashi T; Banno, Kouji K; Yanokura, Megumi M; Anko, Mayuka M; Kobayashi, Arata A; Sera, Asako A; Takahashi, Takayuki T; Adachi, Masataka M; Kobayashi, Yusuke Y; Hayashi, Shigenori S; Nomura, Hiroyuki H; Hirasawa, Akira A; Tominaga, Eiichiro E; Aoki, Daisuke D

Publication Date: 2018-11

Variant appearance in text: MSH2: 1042C>T; Gln348*

PubMed Link: 30402230

Variant Present in the following documents:

• Main text
• mco-09-05-0479.pdf

View BVdb publication page

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Universal molecular screening does not effectively detect Lynch syndrome in clinical practice.

Therapeutic Advances In Gastroenterology

Brennan, Beatrice B; Hemmings, Christine T CT; Clark, Ian I; Yip, Desmond D; Fadia, Mitali M; Taupin, Douglas R DR

Publication Date: 2017-04

Variant appearance in text: MSH2: 1042C>T

PubMed Link: 28491141

Variant Present in the following documents:

• Main text
• 10.1177_1756283X17690990.pdf

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Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine

Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2016-03

Variant appearance in text: MSH2: 1042C>T; Gln348*

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

View BVdb publication page

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