Publications:

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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: APC: C1249*

PubMed Link: 35803914

Variant Present in the following documents:

• 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: APC: 3747C>A; Cys1249*

PubMed Link: 35495172

Variant Present in the following documents:

• Main text
• fgene-13-858396.pdf
• DataSheet1.xlsx, sheet 3

View BVdb publication page

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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: APC: C1249*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: APC: C1249*

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: APC: Cys1249*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

Bmc Research Notes

Tao, Hong H; Shinmura, Kazuya K; Yamada, Hidetaka H; Maekawa, Masato M; Osawa, Satoshi S; Takayanagi, Yasuhiro Y; Okamoto, Kazuya K; Terai, Tomohiro T; Mori, Hiroki H; Nakamura, Toshio T; Sugimura, Haruhiko H

Publication Date: 2010-11-16

Variant appearance in text: APC: 3747C>A; Cys1249X

PubMed Link: 21078199

Variant Present in the following documents:

• Main text
• 1756-0500-3-305.pdf

View BVdb publication page

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 3747C>A; Cys1249X

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

View BVdb publication page

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