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: 842C>G; Ser281Ter

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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Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.

Cancers

Sánchez, Ariadna A; Bujanda, Luis L; Cuatrecasas, Miriam M; Bofill, Alex A; Alvarez-Urturi, Cristina C; Hernandez, Goretti G; Aguilera, Lara L; Carballal, Sabela S; Llach, Joan J; Herrera-Pariente, Cristina C; Iglesias, Mar M; Rivero-Sánchez, Liseth L; Jung, Gerhard G; Moreno, Lorena L; Ocaña, Teresa T; Bayarri, Carolina C; Pellise, Maria M; Castells, Antoni A; Castellví-Bel, Sergi S; Balaguer, Francesc F; Moreira, Leticia L

Publication Date: 2021-12-20

Variant appearance in text: MSH2: Ser281Ter

PubMed Link: 34944998

Variant Present in the following documents:

• Main text
• cancers-13-06378.pdf

View BVdb publication page

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Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma.

Cancers

Sánchez, Ariadna A; Bujanda, Luis L; Cuatrecasas, Miriam M; Bofill, Alex A; Alvarez-Urturi, Cristina C; Hernandez, Goretti G; Aguilera, Lara L; Carballal, Sabela S; Llach, Joan J; Herrera-Pariente, Cristina C; Iglesias, Mar M; Rivero-Sánchez, Liseth L; Jung, Gerhard G; Moreno, Lorena L; Ocaña, Teresa T; Bayarri, Carolina C; Pellise, Maria M; Castells, Antoni A; Castellví-Bel, Sergi S; Balaguer, Francesc F; Moreira, Leticia L

Publication Date: 2021-12-20

Variant appearance in text: MSH2: Ser281Ter

PubMed Link: 34944998

Variant Present in the following documents:

• Main text
• cancers-13-06378.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: MSH2: 842C>G; Ser281Ter; rs63749991

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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Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Journal Of Translational Medicine

Jaballah-Gabteni, Amira A; Tounsi, Haifa H; Kabbage, Maria M; Hamdi, Yosr Y; Elouej, Sahar S; Ben Ayed, Ines I; Medhioub, Mouna M; Mahmoudi, Moufida M; Dallali, Hamza H; Yaiche, Hamza H; Ben Jemii, Nadia N; Maaloul, Afifa A; Mezghani, Najla N; Abdelhak, Sonia S; Hamzaoui, Lamine L; Azzouz, Mousaddak M; Boubaker, Samir S

Publication Date: 2019-06-27

Variant appearance in text: MSH2: Ser281X

PubMed Link: 31248416

Variant Present in the following documents:

• Main text
• 12967_2019_Article_1961.pdf

View BVdb publication page

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Single-center study of Lynch syndrome screening in colorectal polyps.

Hereditary Cancer In Clinical Practice

Zhu, FangChao F; Pan, Da D; Zhang, Hui H; Ye, Qiong Q; Xu, PeiSong P; Pan, Jie J

Publication Date: 2019

Variant appearance in text: MSH2: 842C>G

PubMed Link: 30918532

Variant Present in the following documents:

• Main text
• 13053_2019_Article_108.pdf

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: MSH2: 842C>G; Ser281*; rs63749991

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MSH2: 842C>G; S281*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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