Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: TP53BP1: I1179V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: TP53BP1: 3535A>G; Ile1179Val; rs3803339

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: TP53BP1: I1179V; rs3803339

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.

Journal Of Hematology & Oncology

Sun, Chenggong C; Cao, Wenyu W; Qiu, Chunping C; Li, Chengcheng C; Dongol, Samina S; Zhang, Zhiwei Z; Dong, Ruifen R; Song, Kun K; Yang, Xingsheng X; Zhang, Qing Q; Kong, Beihua B

Publication Date: 2020-01-31

Variant appearance in text: TP53BP1: I1179V; rs3803339

PubMed Link: 32005272

Variant Present in the following documents:

• 13045_2020_844_MOESM10_ESM.xlsx, sheet 1
• 13045_2020_844_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: TP53BP1: 3535A>G; Ile1179Val; rs3803339

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 12

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs3803339

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: TP53BP1: I1179V; rs3803339

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.

Scientific Reports

Wang, Jingwen J; Skoog, Tiina T; Einarsdottir, Elisabet E; Kaartokallio, Tea T; Laivuori, Hannele H; Grauers, Anna A; Gerdhem, Paul P; Hytönen, Marjo M; Lohi, Hannes H; Kere, Juha J; Jiao, Hong H

Publication Date: 2016-09-16

Variant appearance in text: rs3803339

PubMed Link: 27633116

Variant Present in the following documents:

• Main text
• srep33256.pdf

View BVdb publication page

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Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants.

Scientific Reports

Kaartokallio, Tea T; Wang, Jingwen J; Heinonen, Seppo S; Kajantie, Eero E; Kivinen, Katja K; Pouta, Anneli A; Gerdhem, Paul P; Jiao, Hong H; Kere, Juha J; Laivuori, Hannele H

Publication Date: 2016-07-07

Variant appearance in text: rs3803339

PubMed Link: 27384325

Variant Present in the following documents:

• Main text
• srep29085-s2.xls, sheet 1
• srep29085.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3803339

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: TP53BP1: I1179V; rs3803339

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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