Publications:

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Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: TP53: 46C>T

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.xlsx, sheet 1

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TP53: Q16*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.

Leukemia

Lim, Tristan L TL; Lieberman, David B DB; Davis, Adam R AR; Loren, Alison W AW; Hausler, Ryan R; Bigdeli, Ashkan A; Li, Yimei Y; Powers, Jacquelyn J; Raper, Anna A; Regeneron Genetics Center, ; Carty, Shannon A SA; Nathanson, Katherine L KL; Bagg, Adam A; Hexner, Elizabeth O EO; Maxwell, Kara N KN; Morrissette, Jennifer J D JJD; Babushok, Daria V DV

Publication Date: 2022-01

Variant appearance in text: TP53: Q16*

PubMed Link: 34193977

Variant Present in the following documents:

• NIHMS1716876-supplement-Supplemental_Table_S5.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: TP53: 46C>T

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: TP53: Q16X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: TP53: Q16*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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Phase I studies of vorinostat with ixazomib or pazopanib imply a role of antiangiogenesis-based therapy for TP53 mutant malignancies.

Scientific Reports

Wang, Yudong Y; Janku, Filip F; Piha-Paul, Sarina S; Hess, Kenneth K; Broaddus, Russell R; Liu, Lidong L; Shi, Naiyi N; Overman, Michael M; Kopetz, Scott S; Subbiah, Vivek V; Naing, Aung A; Hong, David D; Tsimberidou, Apostolia M AM; Karp, Daniel D; Yao, James J; Fu, Siqing S

Publication Date: 2020-02-20

Variant appearance in text: TP53: Q16*

PubMed Link: 32080210

Variant Present in the following documents:

• Main text
• 41598_2020_Article_58366.pdf

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: TP53: Gln16Ter

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

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Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules.

Journal Of Thoracic Disease

Ye, Mingzhi M; Li, Shiyong S; Huang, Weizhe W; Wang, Chunli C; Liu, Liping L; Liu, Jun J; Liu, Jilong J; Pan, Hui H; Deng, Qiuhua Q; Tang, Hailing H; Jiang, Long L; Huang, Weizhe W; Chen, Xi X; Shao, Di D; Peng, Zhiyu Z; Wu, Renhua R; Zhong, Jing J; Wang, Zhe Z; Zhang, Xiaoping X; Kristiansen, Karsten K; Wang, Jian J; Yin, Ye Y; Mao, Mao M; He, Jianxing J; Liang, Wenhua W

Publication Date: 2018-04

Variant appearance in text: TP53: Gln16*

PubMed Link: 29780628

Variant Present in the following documents:

• Main text

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Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.

Plos One

Krøigård, Anne Bruun AB; Larsen, Martin Jakob MJ; Lænkholm, Anne-Vibeke AV; Knoop, Ann S AS; Jensen, Jeanette Dupont JD; Bak, Martin M; Mollenhauer, Jan J; Thomassen, Mads M; Kruse, Torben A TA

Publication Date: 2018

Variant appearance in text: TP53: 46C>T

PubMed Link: 29293529

Variant Present in the following documents:

• pone.0189887.s007.xlsx, sheet 1

View BVdb publication page

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