Publications:

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature Communications

Robinson, Philip S PS; Thomas, Laura E LE; Abascal, Federico F; Jung, Hyunchul H; Harvey, Luke M R LMR; West, Hannah D HD; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Coorens, Tim H H THH; Lee-Six, Henry H; Butlin, Laura L; Lander, Nicola N; Truscott, Rebekah R; Sanders, Mathijs A MA; Lensing, Stefanie V SV; Buczacki, Simon J A SJA; Ten Hoopen, Rogier R; Coleman, Nicholas N; Brunton-Sim, Roxanne R; Rushbrook, Simon S; Saeb-Parsy, Kourosh K; Lalloo, Fiona F; Campbell, Peter J PJ; Martincorena, Iñigo I; Sampson, Julian R JR; Stratton, Michael R MR

Publication Date: 2022-07-08

Variant appearance in text: BRCA2: E2872*

PubMed Link: 35803914

Variant Present in the following documents:

• 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: BRCA2: E2872*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 8614G>T; Glu2872X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.

Oncotarget

Mafficini, Andrea A; Simbolo, Michele M; Parisi, Alice A; Rusev, Borislav B; Luchini, Claudio C; Cataldo, Ivana I; Piazzola, Elena E; Sperandio, Nicola N; Turri, Giona G; Franchi, Massimo M; Tortora, Giampaolo G; Bovo, Chiara C; Lawlor, Rita T RT; Scarpa, Aldo A

Publication Date: 2016-01-12

Variant appearance in text: BRCA2: 8614G>T; Glu2872Ter

PubMed Link: 26745875

Variant Present in the following documents:

• Main text
• oncotarget-07-1076.pdf

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