Publications:

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Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications

Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA

Publication Date: 2022-10

Variant appearance in text: TP53: 692C>A; T231N

PubMed Link: 36311816

Variant Present in the following documents:

• crc-22-0314-s02.xlsx, sheet 6

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 692C>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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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: TP53: 692C>A; T231N

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Protein mimetic amyloid inhibitor potently abrogates cancer-associated mutant p53 aggregation and restores tumor suppressor function.

Nature Communications

Palanikumar, L L; Karpauskaite, Laura L; Al-Sayegh, Mohamed M; Chehade, Ibrahim I; Alam, Maheen M; Hassan, Sarah S; Maity, Debabrata D; Ali, Liaqat L; Kalmouni, Mona M; Hunashal, Yamanappa Y; Ahmed, Jemil J; Houhou, Tatiana T; Karapetyan, Shake S; Falls, Zackary Z; Samudrala, Ram R; Pasricha, Renu R; Esposito, Gennaro G; Afzal, Ahmed J AJ; Hamilton, Andrew D AD; Kumar, Sunil S; Magzoub, Mazin M

Publication Date: 2021-06-25

Variant appearance in text: p53: T231N

PubMed Link: 34172723

Variant Present in the following documents:

• 41467_2021_23985_MOESM1_ESM.pdf

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Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications

Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M

Publication Date: 2021-03-04

Variant appearance in text: TP53: Thr231Asn

PubMed Link: 33664264

Variant Present in the following documents:

• 41467_2021_21576_MOESM1_ESM.pdf

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: TP53: 692C>A; Thr231Asn

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: T231N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: T231N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: T231N

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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TP53 and PIK3CA gene mutations in adenocarcinoma, squamous cell carcinoma and high-grade intraepithelial neoplasia of the cervix.

Journal Of Translational Medicine

Tornesello, Maria Lina ML; Annunziata, Clorinda C; Buonaguro, Luigi L; Losito, Simona S; Greggi, Stefano S; Buonaguro, Franco M FM

Publication Date: 2014-09-16

Variant appearance in text: TP53: T231N

PubMed Link: 25220666

Variant Present in the following documents:

• Main text
• 12967_2014_Article_255.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: T231N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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