Publications:

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Evaluating the prognostic significance of p53 and TP53 mutations in HPV-negative hypopharyngeal carcinoma patients: a 5-year follow-up retrospective study.

Bmc Cancer

Huang, Qiang Q; Li, Feiran F; Ji, Mengyou M; Lin, Lan L; Hu, Chunyan C

Publication Date: 2023-04-06

Variant appearance in text: TP53: A189V

PubMed Link: 37024846

Variant Present in the following documents:

• Main text
• 12885_2023_Article_10775.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: p53: A189V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: TP53: 566C>T; A189V; rs121912665

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: TP53: 566C>T; A189V

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: A189V

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 7

View BVdb publication page

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Concordance Between Recommendations From Multidisciplinary Molecular Tumor Boards and Central Consensus for Cancer Treatment in Japan.

Jama Network Open

Naito, Yoichi Y; Sunami, Kuniko K; Kage, Hidenori H; Komine, Keigo K; Amano, Toraji T; Imai, Mitsuho M; Koyama, Takafumi T; Ennishi, Daisuke D; Kanai, Masashi M; Kenmotsu, Hirotsugu H; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Watanabe, Kousuke K; Shirota, Hidekazu H; Kinoshita, Ichiro I; Yoshioka, Masashiro M; Mamesaya, Nobuaki N; Ito, Mamoru M; Kohsaka, Shinji S; Saigusa, Yusuke Y; Yamamoto, Kouji K; Hirata, Makoto M; Tsuchihara, Katsuya K; Yoshino, Takayuki T

Publication Date: 2022-12-01

Variant appearance in text: TP53: A189V

PubMed Link: 36469316

Variant Present in the following documents:

• Main text
• jamanetwopen-e2245081-s001.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TP53: 566C>T; A189V

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 566C>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing of circulating tumor DNA provides prognostic information for management in breast cancer patients.

Annals Of Translational Medicine

Shim, Hyoeun H; Kwon, Min Jeong MJ; Park, In Hae IH; Kim, Min Kyeong MK; Cho, Eun-Hae EH; Lee, Junnam J; Lee, Seung-Tae ST; Sim, Sung Hoon SH; Lee, Keun Seok KS; Kim, Yun-Hee YH; Kim, Seok-Ki SK; Lee, Eun Sook ES; Kong, Sun-Young SY

Publication Date: 2022-01

Variant appearance in text: TP53: A189V

PubMed Link: 35282050

Variant Present in the following documents:

• Main text
• atm-10-02-28.pdf

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: TP53: 566C>T; rs121912665

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: TP53: 566C>T; A189V; rs121912665

PubMed Link: 35043155

Variant Present in the following documents:

• Main text
• bbab524.pdf
• supplementary_information_bbab524.pdf
• supplementary_figure_s4a_and_b_bbab524.pdf
• supplementary_table_s7_bbab524.xlsx, sheet 2

View BVdb publication page

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Germline TP53 c.566C>T mutation incidentally diagnosed during treatment for acute myeloid leukemia: A case report.

Clinical Case Reports

Sato, Hiroshi H; Matsuo, Seiki S; Ando, Yukiko Y; Imamura, Yuko Y; Hirose, Masaya M

Publication Date: 2021-12

Variant appearance in text: TP53: 566C>T

PubMed Link: 34963807

Variant Present in the following documents:

• Main text
• CCR3-9-e05221.pdf

View BVdb publication page

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Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment

Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2022-10

Variant appearance in text: TP53: 566C>T; Ala189Val; rs121912665

PubMed Link: 34793666

Variant Present in the following documents:

• crt-2021-978_S4_Table.pdf

View BVdb publication page

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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: 566C>T; A189V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT.

Cancer Science

Funato, Michinori M; Tsunematsu, Yukiko Y; Yamazaki, Fumito F; Tamura, Chieko C; Kumamoto, Tadashi T; Takagi, Masatoshi M; Kato, Shunsuke S; Sugimura, Haruhiko H; Tamura, Kazuo K

Publication Date: 2021-05-01

Variant appearance in text: TP53: Ala189Val

PubMed Link: 33932062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Features of Breast Cancer in South Korean Patients with Germline TP53 Gene Mutations.

Journal Of Breast Cancer

Alyami, Hassan H; Yoo, Tae Kyung TK; Cheun, Jong Ho JH; Lee, Han Byoel HB; Jung, Sung Mi SM; Ryu, Jai Min JM; Bae, Soong June SJ; Jeong, Joon J; Yoon, Chang Ik CI; Ahn, Juneyoung J; Paik, Pill Sun PS; Cho, Min Kyung MK; Park, Woo Chan WC

Publication Date: 2021-04

Variant appearance in text: TP53: 566C>T

PubMed Link: 33818021

Variant Present in the following documents:

• Main text
• jbc-24-175.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 566C>T; A189V

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.

Endocrinology And Metabolism (Seoul, Korea)

Seo, Soo Hyun SH; Kim, Jung Hee JH; Kim, Man Jin MJ; Cho, Sung Im SI; Kim, Su Jin SJ; Kang, Hyein H; Shin, Chan Soo CS; Park, Sung Sup SS; Lee, Kyu Eun KE; Seong, Moon-Woo MW

Publication Date: 2020-12

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 33397043

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 566C>T; rs121912665

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM4_ESM.xlsx, sheet 8
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM4_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 566C>T; rs121912665

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM4_ESM.xlsx, sheet 8
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM4_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM2_ESM.pdf
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: TP53: A189V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Analysis of clinicopathological and molecular features of crawling-type gastric adenocarcinoma.

Diagnostic Pathology

Fujita, Yasuko Y; Uesugi, Noriyuki N; Sugimoto, Ryo R; Eizuka, Makoto M; Toya, Yosuke Y; Akasaka, Risaburo R; Matsumoto, Takayuki T; Sugai, Tamotsu T

Publication Date: 2020-09-17

Variant appearance in text: TP53: 566C>T

PubMed Link: 32943104

Variant Present in the following documents:

• Main text
• 13000_2020_Article_1026.pdf

View BVdb publication page

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: TP53: A189V

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: p53: Ala189Val

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Analysis of Clinically Defined Subsets of High-Grade Serous Ovarian Cancer.

Cell Reports

Lee, Sanghoon S; Zhao, Li L; Rojas, Christine C; Bateman, Nicholas W NW; Yao, Hui H; Lara, Olivia D OD; Celestino, Joseph J; Morgan, Margaret B MB; Nguyen, Tri V TV; Conrads, Kelly A KA; Rangel, Kelly M KM; Dood, Robert L RL; Hajek, Richard A RA; Fawcett, Gloria L GL; Chu, Randy A RA; Wilson, Katlin K; Loffredo, Jeremy L JL; Viollet, Coralie C; Jazaeri, Amir A AA; Dalgard, Clifton L CL; Mao, Xizeng X; Song, Xingzhi X; Zhou, Ming M; Hood, Brian L BL; Banskota, Nirad N; Wilkerson, Matthew D MD; Te, Jerez J; Soltis, Anthony R AR; Roman, Kristin K; Dunn, Andrew A; Cordover, David D; Eterovic, Agda Karina AK; Liu, Jinsong J; Burks, Jared K JK; Baggerly, Keith A KA; Fleming, Nicole D ND; Lu, Karen H KH; Westin, Shannon N SN; Coleman, Robert L RL; Mills, Gordon B GB; Casablanca, Yovanni Y; Zhang, Jianhua J; Conrads, Thomas P TP; Maxwell, George L GL; Futreal, P Andrew PA; Sood, Anil K AK

Publication Date: 2020-04-14

Variant appearance in text: TP53: A189V

PubMed Link: 32294438

Variant Present in the following documents:

• NIHMS1584940-supplement-3.xlsx, sheet 1

View BVdb publication page

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Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Plos One

Nakanishi, Hiroyoshi H; Sawada, Takeshi T; Kaizaki, Yasuharu Y; Ota, Ryosuke R; Suzuki, Hiromu H; Yamamoto, Eiichiro E; Aoki, Hironori H; Eizuka, Makoto M; Hasatani, Kenkei K; Takahashi, Naoki N; Inagaki, Satoko S; Ebi, Masahide M; Kato, Hiroyuki H; Kubota, Eiji E; Kataoka, Hiromi H; Takahashi, Satoru S; Tokino, Takashi T; Minamoto, Toshinari T; Sugai, Tamotsu T; Sasaki, Yasushi Y

Publication Date: 2020

Variant appearance in text: TP53: Ala189Val

PubMed Link: 32092099

Variant Present in the following documents:

• pone.0229262.s007.xlsx, sheet 1

View BVdb publication page

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Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine

Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J

Publication Date: 2020-02-18

Variant appearance in text: TP53: A189V

PubMed Link: 32070411

Variant Present in the following documents:

• 13073_2020_717_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

View BVdb publication page

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Advanced Invasive Extramammary Paget's Disease Concomitant with Cecal Cancer Possessing Rare Variant of TP53 Single Nucleotide Polymorphism.

Case Reports In Oncology

Kambayashi, Yumi Y; Fujimura, Taku T; Ohuchi, Kentaro K; Tono, Hisayuki H; Ishida, Yoshihiro Y; Otsuka, Atsushi A; Aiba, Setsuya S

Publication Date: 2019

Variant appearance in text: rs121912665

PubMed Link: 31824279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: TP53: 566C>T; Ala189Val; rs121912665

PubMed Link: 31742824

Variant Present in the following documents:

• CAS-111-647-s002.xlsx, sheet 1

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: A189V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: TP53: A189V; rs121912665

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: TP53: 566C>T; A189V; rs121912665

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 3

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TP53: A189V; rs121912665

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Human Mutation

de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI

Publication Date: 2019-01

Variant appearance in text: TP53: 566C>T; A189V

PubMed Link: 30352134

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: TP53: 566C>T; Ala189Val; rs121912665

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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Erratum: Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-09

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 30022640

Variant Present in the following documents:

• jgo-29-e80.pdf

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Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.

Journal Of Gynecologic Oncology

Choi, Min Chul MC; Bae, Jin Sik JS; Jung, Sang Geun SG; Park, Hyun H; Joo, Won Duk WD; Song, Seung Hun SH; Lee, Chan C; Kim, Ji Ho JH; Lee, Ki Chan KC; Lee, Sunghoon S; Lee, Je Ho JH

Publication Date: 2018-07

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 29770616

Variant Present in the following documents:

• Main text
• jgo-29-e43.pdf

View BVdb publication page

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Mutational profiling can identify laryngeal dysplasia at risk of progression to invasive carcinoma.

Scientific Reports

Manterola, Lorea L; Aguirre, Pablo P; Larrea, Erika E; Arestín, María M; Gaafar, Ayman A; Elorriaga, Kepa K; Goicoechea, Ibai I; Armesto, María M; Fernández-Mercado, Marta M; Zabalza, Ignacio I; López-Duque, Juan Carlos JC; Larruskain, Ekhiñe E; Sistiaga, Jon Alexander JA; Landa, Mikel M; Zabala, Aitor A; Santaolalla, Francisco F; Municio, José Antonio JA; Ispizua, Ángel Á; García-Pedrero, Juana María JM; Rodrigo, Juan Pablo JP; Lawrie, Charles Henderson CH

Publication Date: 2018-04-26

Variant appearance in text: TP53: A189V

PubMed Link: 29700339

Variant Present in the following documents:

• Main text
• 41598_2018_Article_24780.pdf

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Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter.

Plos One

Kukita, Yoji Y; Ohkawa, Kazuyoshi K; Takada, Ryoji R; Uehara, Hiroyuki H; Katayama, Kazuhiro K; Kato, Kikuya K

Publication Date: 2018

Variant appearance in text: TP53: A189V

PubMed Link: 29451897

Variant Present in the following documents:

• pone.0192611.s007.xlsx, sheet 1

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: A189V; rs121912665

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 1

View BVdb publication page

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Profiling tumour heterogeneity through circulating tumour DNA in patients with pancreatic cancer.

Oncotarget

Adamo, Patricia P; Cowley, Caroline M CM; Neal, Christopher P CP; Mistry, Vilas V; Page, Karen K; Dennison, Ashley R AR; Isherwood, John J; Hastings, Robert R; Luo, JinLi J; Moore, David A DA; Howard, Pringle J PJ; Miguel, Martins L ML; Pritchard, Catrin C; Manson, Margaret M; Shaw, Jacqui A JA

Publication Date: 2017-10-20

Variant appearance in text: TP53: A189V

PubMed Link: 29152076

Variant Present in the following documents:

• oncotarget-08-87221-s006.xlsx, sheet 1

View BVdb publication page

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Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.

The Journal Of Pathology. Clinical Research

Katz-Summercorn, Annalise A; Anand, Shubha S; Ingledew, Sophie S; Huang, Yuanxue Y; Roberts, Thomas T; Galeano-Dalmau, Nuria N; O'Donovan, Maria M; Liu, Hongxiang H; Fitzgerald, Rebecca C RC

Publication Date: 2017-10

Variant appearance in text: TP53: 566C>T

PubMed Link: 29085666

Variant Present in the following documents:

• CJP2-3-258-s004.xlsx, sheet 1

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 566C>T; A189V

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome.

Internal Medicine (Tokyo, Japan)

Yoshida, Tsukasa T; Tajika, Masahiro M; Tanaka, Tsutomu T; Ishihara, Makoto M; Hirayama, Yutaka Y; Mizuno, Nobumasa N; Hara, Kazuo K; Hijioka, Susumu S; Imaoka, Hiroshi H; Hieda, Nobuhiro N; Okuno, Nozomi N; Kinoshita, Takashi T; Bhatia, Vikram V; Shimizu, Yasuhiro Y; Yatabe, Yasushi Y; Yamao, Kenji K; Niwa, Yasumasa Y

Publication Date: 2017

Variant appearance in text: TP53: A189V

PubMed Link: 28154273

Variant Present in the following documents:

• Main text
• 1349-7235-56-0295.pdf

View BVdb publication page

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Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Choi, Hyun Jung HJ; Suh, Soon Pal SP; Ki, Chang Seok CS; Kim, Jong Won JW

Publication Date: 2016-09

Variant appearance in text: TP53: 566C>T; Ala189Val

PubMed Link: 27374712

Variant Present in the following documents:

• Main text
• alm-36-463.pdf

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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: A189V

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: A189V

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Plos One

Chitrala, Kumaraswamy Naidu KN; Yeguvapalli, Suneetha S

Publication Date: 2014

Variant appearance in text: TP53: A189V; rs121912665

PubMed Link: 25105660

Variant Present in the following documents:

• Main text

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