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: 578A>C; H193P; rs786201838
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: TP53: 578A>C; His193Pro
Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.
Nature Communications
Light, Nicholas N; Layeghifard, Mehdi M; Attery, Ayush A; Subasri, Vallijah V; Zatzman, Matthew M; Anderson, Nathaniel D ND; Hatkar, Rupal R; Blay, Sasha S; Chen, David D; Novokmet, Ana A; Fuligni, Fabio F; Tran, James J; de Borja, Richard R; Agarwal, Himanshi H; Waldman, Larissa L; Abegglen, Lisa M LM; Albertson, Daniel D; Finlay, Jonathan L JL; Hansford, Jordan R JR; Behjati, Sam S; Villani, Anita A; Gerstung, Moritz M; Alexandrov, Ludmil B LB; Somers, Gino R GR; Schiffman, Joshua D JD; Rotter, Varda V; Malkin, David D; Shlien, Adam A
Phase I trial of the TNF-α inhibitor certolizumab plus chemotherapy in stage IV lung adenocarcinomas.
Nature Communications
Paik, Paul K PK; Luo, Jia J; Ai, Ni N; Kim, Rachel R; Ahn, Linda L; Biswas, Anup A; Coker, Courtney C; Ma, Wanchao W; Wong, Phillip P; Buonocore, Darren J DJ; Lai, W Victoria WV; Chaft, Jamie E JE; Acharyya, Swarnali S; Massagué, Joan J; Kris, Mark G MG
Detection of circulating tumour DNA after neoadjuvant chemoradiotherapy in patients with locally advanced oesophageal cancer.
The Journal Of Pathology
Eyck, Ben M BM; Jansen, Maurice Phm MP; Noordman, Bo Jan BJ; Atmodimedjo, Peggy N PN; van der Wilk, Berend J BJ; Martens, John Wm JW; Helmijr, Jean A JA; Beaufort, Corine M CM; Mostert, Bianca B; Doukas, Michail M; Wijnhoven, Bas Pl BP; Lagarde, Sjoerd M SM; van Lanschot, J Jan B JJB; Dinjens, Winand Nm WN
Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides.
Frontiers In Oncology
Scandolara, Thalita Basso TB; Valle, Sara Ferreira SF; Teixeira, Cristiane Esteves CE; Scherer, Nicole de Miranda NM; de Armas, Elvismary Molina EM; Furtado, Carolina C; Boroni, Mariana M; Jaques, Hellen Dos Santos HDS; Alves, Fernanda Mara FM; Rech, Daniel D; Panis, Carolina C; Bonvicino, Cibele Rodrigues CR
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
The Landscape of Actionable Genomic Alterations by Next-Generation Sequencing in Tumor Tissue Versus Circulating Tumor DNA in Chinese Patients With Non-Small Cell Lung Cancer.
Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.
Jci Insight
Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R
Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.
Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Discordance of PIK3CA and TP53 mutations between breast cancer brain metastases and matched primary tumors.
Scientific Reports
Thulin, Anna A; Andersson, Carola C; Werner Rönnerman, Elisabeth E; De Lara, Shahin S; Chamalidou, Chaido C; Schoenfeld, Arnd A; Kovács, Anikó A; Fagman, Henrik H; Enlund, Fredrik F; Linderholm, Barbro K BK
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: TP53: 578A>C; His193Pro
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
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Human Mutation
Fortuno, Cristina C; Lee, Kristy K; Olivier, Magali M; Pesaran, Tina T; Mai, Phuong L PL; de Andrade, Kelvin C KC; Attardi, Laura D LD; Crowley, Stephanie S; Evans, D Gareth DG; Feng, Bing-Jian BJ; Foreman, Ann K M AKM; Frone, Megan N MN; Huether, Robert R; James, Paul A PA; McGoldrick, Kelly K; Mester, Jessica J; Seifert, Bryce A BA; Slavin, Thomas P TP; Witkowski, Leora L; Zhang, Liying L; Plon, Sharon E SE; Spurdle, Amanda B AB; Savage, Sharon A SA; ,
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Identification of relevant genetic alterations in cancer using topological data analysis.
Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.
Surgical Oncology
Lowder, Cinthya Y CY; Dhir, Teena T; Goetz, Austin B AB; Thomsett, Henry L HL; Bender, Joseph J; Tatarian, Talar T; Madhavan, Subha S; Petricoin, Emanuel F EF; Blais, Edik E; Lavu, Harish H; Winter, Jordan M JM; Posey, James J; Brody, Jonathan R JR; Pishvaian, Michael J MJ; Yeo, Charles J CJ
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
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
DNA methylation signature is prognostic of choroid plexus tumor aggressiveness.
Clinical Epigenetics
Pienkowska, Malgorzata M; Choufani, Sanaa S; Turinsky, Andrei L AL; Guha, Tanya T; Merino, Diana M DM; Novokmet, Ana A; Brudno, Michael M; Weksberg, Rosanna R; Shlien, Adam A; Hawkins, Cynthia C; Bouffet, Eric E; Tabori, Uri U; Gilbertson, Richard J RJ; Finlay, Jonathan L JL; Jabado, Nada N; Thomas, Christian C; Sill, Martin M; Capper, David D; Hasselblatt, Martin M; Malkin, David D
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
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
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U