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: 830T>G; Leu277Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH2: L277X

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.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: MSH2: 830T>G; Leu277Ter; rs786203424

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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The contribution of Lynch syndrome to early onset malignancy in Ireland.

Bmc Cancer

Talbot, Alice A; O'Donovan, Emily E; Berkley, Eileen E; Nolan, Carmel C; Clarke, Roisin R; Gallagher, David D

Publication Date: 2021-05-26

Variant appearance in text: MSH2: L277X

PubMed Link: 34039291

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8263.pdf

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: MSH2: L277*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

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Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

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

Hampel, Heather H; Frankel, Wendy L WL; Martin, Edward E; Arnold, Mark M; Khanduja, Karamjit K; Kuebler, Philip P; Clendenning, Mark M; Sotamaa, Kaisa K; Prior, Thomas T; Westman, Judith A JA; Panescu, Jenny J; Fix, Dan D; Lockman, Janet J; LaJeunesse, Jennifer J; Comeras, Ilene I; de la Chapelle, Albert A

Publication Date: 2008-12-10

Variant appearance in text: MSH2: 830T>G; L277X

PubMed Link: 18809606

Variant Present in the following documents:

• Main text

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