Publications:

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: MSH6: 2982C>G; Tyr994Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: MSH6: Y994X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1
• BCO2-4-156-s001.xlsx, sheet 2

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MSH6: Y994X

PubMed Link: 35449176

Variant Present in the following documents:

• Main text
• 41523_2022_Article_417.pdf
• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

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Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research

Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID

Publication Date: 2021-12-06

Variant appearance in text: MSH6: 2982C>G; Tyr994*

PubMed Link: 34873870

Variant Present in the following documents:

• Main text
• CJP2-8-181-s002.xlsx, sheet 1
• CJP2-8-181.pdf

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Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

The Journal Of Pathology. Clinical Research

Kryklyva, Valentyna V; Brosens, Lodewijk Aa LA; Marijnissen-van Zanten, Monica Aj MA; Ligtenberg, Marjolijn Jl MJ; Nagtegaal, Iris D ID

Publication Date: 2022-03

Variant appearance in text: MSH6: 2982C>G; Tyr994*

PubMed Link: 34873870

Variant Present in the following documents:

• Main text
• CJP2-8-181-s002.xlsx, sheet 1
• CJP2-8-181.pdf

View BVdb publication page