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: MLH1: 378C>G; Tyr126Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.

Scientific Reports

Duchnowska, Renata R; Supernat, Anna Maria AM; Pęksa, Rafał R; Łukasiewicz, Marta M; Stokowy, Tomasz T; Ronen, Roy R; Dutkowski, Janusz J; Umińska, Monika M; Iżycka-Świeszewska, Ewa E; Kowalczyk, Anna A; Och, Waldemar W; Rucińska, Monika M; Olszewski, Wojciech P WP; Mandat, Tomasz T; Jarosz, Bożena B; Bieńkowski, Michał M; Biernat, Wojciech W; Jassem, Jacek J

Publication Date: 2022-11-29

Variant appearance in text: MLH1: Tyr126*

PubMed Link: 36446793

Variant Present in the following documents:

• 41598_2022_Article_23788.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: MLH1: 378C>G; Tyr126Ter; rs63751606

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: MLH1: 378C>G; Y126*

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s002.xlsx, sheet 1

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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications

Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS

Publication Date: 2016-06-22

Variant appearance in text: MLH1: 378C>G; Tyr126Ter

PubMed Link: 27329137

Variant Present in the following documents:

• ncomms11883-s1.pdf

View BVdb publication page