Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.
Breast Cancer Research : Bcr
Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M
Combined inhibition of BCL-2 and MCL-1 overcomes BAX deficiency-mediated resistance of TP53-mutant acute myeloid leukemia to individual BH3 mimetics.
Blood Cancer Journal
Carter, Bing Z BZ; Mak, Po Yee PY; Tao, Wenjing W; Ayoub, Edward E; Ostermann, Lauren B LB; Huang, Xuelin X; Loghavi, Sanam S; Boettcher, Steffen S; Nishida, Yuki Y; Ruvolo, Vivian V; Hughes, Paul E PE; Morrow, Phuong K PK; Haferlach, Torsten T; Kornblau, Steven S; Muftuoglu, Muharrem M; Andreeff, Michael M
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: 537T>A; His179Gln
ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).
Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy.
Frontiers In Oncology
Seborova, Karolina K; Hlavac, Viktor V; Holy, Petr P; Bjørklund, Sunniva S SS; Fleischer, Thomas T; Rob, Lukas L; Hruda, Martin M; Bouda, Jiri J; Mrhalova, Marcela M; Allah, Mohammad Moufaq Khatar Al Obeed MMKAO; Vodicka, Pavel P; Fiala, Ondrej O; Soucek, Pavel P; Kristensen, Vessela N VN; Vodickova, Ludmila L; Vaclavikova, Radka R
Distinct clonal identities of B-ALLs arising after Lenolidomide therapy for multiple myeloma.
Blood Advances
Barnell, Erica K EK; Skidmore, Zachary L ZL; Newcomer, Kenneth F KF; Chavez, Monique M; Campbell, Katie M KM; Cotto, Kelsy C KC; Spies, Nicholas C NC; Ruzinova, Marianna B MB; Wang, Tianjiao T; Abro, Brooj B; Kreisel, Friederike F; Parikh, Bijal A BA; Duncavage, Eric J EJ; Frater, John L JL; Lee, Yi-Shan YS; Hassan, Anjum A; King, Justin J; Kohnen, Daniel R DR; Fiala, Mark A MA; Welch, John S S JSS; Uy, Geoffrey L GL; Vij, Kiran K; Vij, Ravi R; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Blood
Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A
GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.
Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.
Plos One
Dansonka-Mieszkowska, Agnieszka A; Szafron, Laura Aleksandra LA; Kulesza, Magdalena M; Stachurska, Anna A; Leszczynski, Pawel P; Tomczyk-Szatkowska, Agnieszka A; Sobiczewski, Piotr P; Parada, Joanna J; Kulinczak, Mariusz M; Moes-Sosnowska, Joanna J; Pienkowska-Grela, Barbara B; Kupryjanczyk, Jolanta J; Chechlinska, Magdalena M; Szafron, Lukasz Michal LM
Publication Date: 2022
Variant appearance in text: TP53: 537T>A; His179Gln; rs876660821
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
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06
Variant appearance in text: TP53: 537T>A; His179Gln
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
Phase 1b study of berzosertib and cisplatin in patients with advanced triple-negative breast cancer.
Npj Breast Cancer
Telli, Melinda L ML; Tolaney, Sara M SM; Shapiro, Geoffrey I GI; Middleton, Mark M; Lord, Simon R SR; Arkenau, Hendrik Tobias HT; Tutt, Andrew A; Abramson, Vandana V; Dean, Emma E; Haddad, Tufia C TC; Wesolowski, Robert R; Ferrer-Playan, Jordi J; Goddemeier, Thomas T; Grombacher, Thomas T; Dong, Jennifer J; Fleuranceau-Morel, Patricia P; Diaz-Padilla, Ivan I; Plummer, Ruth R
Multi-institutional Analysis of the Clinical and Genomic Characteristics of Black Patients with Metastatic Hormone-Sensitive Prostate Cancer.
The Oncologist
Freeman, Meredith N MN; Jang, Albert A; Zhu, Jason J; Sanati, Farhad F; Nandagopal, Lakshminarayanan L; Ravindranathan, Deepak D; Desai, Arpita A; Phone, Audrey A; Nussenzveig, Roberto R; Jaeger, Ellen E; Caputo, Sydney A SA; Koshkin, Vadim S VS; Swami, Umang U; Basu, Arnab A; Bilen, Mehmet A MA; Agarwal, Neeraj N; Sartor, Oliver O; Burgess, Earle F EF; Barata, Pedro C PC
Decitabine salvage for TP53-mutated, relapsed/refractory acute myeloid leukemia after cytotoxic induction therapy.
Haematologica
Ferraro, Francesca F; Gruszczynska, Agata A; Ruzinova, Marianna B MB; Miller, Christopher A CA; Percival, Mary Elizabeth ME; Uy, Geoffrey L GL; Pusic, Iskra I; Jacoby, Meagan A MA; Christopher, Mathew J MJ; Kim, Miriam Y MY; Westervelt, Peter P; Cashen, Amanda F AF; Schroeder, Mark A MA; DiPersio, John F JF; Abboud, Camille N CN; Wartman, Lukas D LD; Gao, Feng F; Link, Daniel C DC; Ley, Timothy J TJ; Welch, John S JS
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
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.
Nature Communications
DeSisto, John J; Lucas, John T JT; Xu, Ke K; Donson, Andrew A; Lin, Tong T; Sanford, Bridget B; Wu, Gang G; Tran, Quynh T QT; Hedges, Dale D; Hsu, Chih-Yang CY; Armstrong, Gregory T GT; Arnold, Michael M; Bhatia, Smita S; Flannery, Patrick P; Lemma, Rakeb R; Hardie, Lakotah L; Schüller, Ulrich U; Venkataraman, Sujatha S; Hoffman, Lindsey M LM; Dorris, Kathleen K; Mulcahy Levy, Jean M JM; Hankinson, Todd C TC; Handler, Michael M; Liu, Arthur K AK; Foreman, Nicholas N; Vibhakar, Rajeev R; Jones, Kenneth K; Allen, Sariah S; Zhang, Jinghui J; Baker, Suzanne J SJ; Merchant, Thomas E TE; Orr, Brent A BA; Green, Adam L AL
Synoradzki, Kamil Jozef KJ; Bartnik, Ewa E; Czarnecka, Anna M AM; Fiedorowicz, Michał M; Firlej, Wiktoria W; Brodziak, Anna A; Stasinska, Agnieszka A; Rutkowski, Piotr P; Grieb, Paweł P
Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.
Nature Communications
Redman-Rivera, Lindsay N LN; Shaver, Timothy M TM; Jin, Hailing H; Marshall, Clayton B CB; Schafer, Johanna M JM; Sheng, Quanhu Q; Hongo, Rachel A RA; Beckermann, Kathryn E KE; Wheeler, Ferrin C FC; Lehmann, Brian D BD; Pietenpol, Jennifer A JA
Incidental findings from cancer next generation sequencing panels.
Npj Genomic Medicine
Maani, Nika N; Panabaker, Karen K; McCuaig, Jeanna M JM; Buckley, Kathleen K; Semotiuk, Kara K; Farncombe, Kirsten M KM; Ainsworth, Peter P; Panchal, Seema S; Sadikovic, Bekim B; Armel, Susan Randall SR; Lin, Hanxin H; Kim, Raymond H RH
Publication Date: 2021-07-19
Variant appearance in text: TP53: 537T>A; His179Gln
Immuno-genomic classification of colorectal cancer organoids reveals cancer cells with intrinsic immunogenic properties associated with patient survival.
Journal Of Experimental & Clinical Cancer Research : Cr
Cho, Eun Jeong EJ; Kim, Minsuh M; Jo, Daum D; Kim, Jihye J; Oh, Ji-Hye JH; Chung, Hee Chul HC; Lee, Sun-Hye SH; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jihun J; Lee, Hyeonjin H; Kim, Tae Won TW; Yu, Chang Sik CS; Sung, Chang Ohk CO; Jang, Se Jin SJ
Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.
Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Nature Communications
Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC
Spatial Heterogeneity in Large Resected Diffuse Large B-Cell Lymphoma Bulks Analysed by Massively Parallel Sequencing of Multiple Synchronous Biopsies.
Cancers
Magnes, Teresa T; Wagner, Sandro S; Thorner, Aaron R AR; Neureiter, Daniel D; Klieser, Eckhard E; Rinnerthaler, Gabriel G; Weiss, Lukas L; Huemer, Florian F; Schlick, Konstantin K; Zaborsky, Nadja N; Steiner, Markus M; Greil, Richard R; Egle, Alexander A; Melchardt, Thomas T
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
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; ,
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI