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: BRAF: 1782T>A; Asp594Glu
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
Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
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
Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.
Jama Network Open
Zhao, Yiqing Y; Yu, Hanzhong H; Ida, Cris M CM; Halling, Kevin C KC; Kipp, Benjamin R BR; Geiersbach, Katherine K; Rumilla, Kandelaria M KM; Gupta, Sounak S; Lin, Ming-Tseh MT; Zheng, Gang G
BRAF in Lung Cancers: Analysis of Patient Cases Reveals Recurrent BRAF Mutations, Fusions, Kinase Duplications, and Concurrent Alterations.
Jco Precision Oncology
Sheikine, Yuri Y; Pavlick, Dean D; Klempner, Samuel J SJ; Trabucco, Sally E SE; Chung, Jon H JH; Rosenzweig, Mark M; Wang, Kai K; Velcheti, Vamsidhar V; Frampton, Garrett M GM; Peled, Nir N; Murray, Molly M; Chae, Young Kwang YK; Albacker, Lee A LA; Gay, Laurie L; Husain, Hatim H; Suh, James H JH; Millis, Sherri Z SZ; Reddy, Venkataprasanth P VP; Elvin, Julia A JA; Hartmaier, Ryan J RJ; Dowlati, Afshin A; Stephens, Phil P; Ross, Jeffrey S JS; Bivona, Trever G TG; Miller, Vincent A VA; Ganesan, Shridar S; Schrock, Alexa B AB; Ou, Sai-Hong Ignatius SI; Ali, Siraj M SM
Clinicopathological and genetic features of limited-stage diffuse large B-cell lymphoma with late relapse: targeted sequencing analysis of gene alterations in the initial and late relapsed tumors.
Pre-analytical factors affecting the establishment of a single tube assay for multiparameter liquid biopsy detection in melanoma patients.
Molecular Oncology
Schneegans, Svenja S; Lück, Lelia L; Besler, Katharina K; Bluhm, Leonie L; Stadler, Julia-Christina JC; Staub, Janina J; Greinert, Rüdiger R; Volkmer, Beate B; Kubista, Mikael M; Gebhardt, Christoffer C; Sartori, Alexander A; Irwin, Darryl D; Serkkola, Elina E; Af Hällström, Taija T; Lianidou, Evi E; Sprenger-Haussels, Markus M; Hussong, Melanie M; Mohr, Peter P; Schneider, Stefan W SW; Shaffer, Jonathan J; Pantel, Klaus K; Wikman, Harriet H
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
BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.
Journal Of Clinical Medicine
Colombino, Maria M; Paliogiannis, Panagiotis P; Cossu, Antonio A; De Re, Valli V; Miolo, Gianmaria G; Botti, Gerardo G; Scognamiglio, Giosuè G; Ascierto, Paolo Antonio PA; Santeufemia, Davide Adriano DA; Fraggetta, Filippo F; Manca, Antonella A; Sini, Maria Cristina MC; Casula, Milena M; Palomba, Grazia G; Pisano, Marina M; Doneddu, Valentina V; Lissia, Amelia A; Fedeli, Maria Antonietta MA; Palmieri, Giuseppe G
Mutation profiling of cancer drivers in Brazilian colorectal cancer.
Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.
Bmc Cancer
Lokhandwala, Parvez M PM; Tseng, Li-Hui LH; Rodriguez, Erika E; Zheng, Gang G; Pallavajjalla, Aparna A; Gocke, Christopher D CD; Eshleman, James R JR; Lin, Ming-Tseh MT
Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.
Npj Precision Oncology
Brastianos, Priscilla K PK; Nayyar, Naema N; Rosebrock, Daniel D; Leshchiner, Ignaty I; Gill, Corey M CM; Livitz, Dimitri D; Bertalan, Mia S MS; D'Andrea, Megan M; Hoang, Kaitlin K; Aquilanti, Elisa E; Chukwueke, Ugonma N UN; Kaneb, Andrew A; Chi, Andrew A; Plotkin, Scott S; Gerstner, Elizabeth R ER; Frosch, Mathew P MP; Suva, Mario L ML; Cahill, Daniel P DP; Getz, Gad G; Batchelor, Tracy T TT
Complementary utility of targeted next-generation sequencing and immunohistochemistry panels as a screening platform to select targeted therapy for advanced gastric cancer.
Oncotarget
Kim, Hyo Song HS; Lee, Hanna H; Shin, Su-Jin SJ; Beom, Seung-Hoon SH; Jung, Minkyu M; Bae, Sujin S; Lee, Eun Young EY; Park, Kyu Hyun KH; Choi, Yoon Young YY; Son, Taeil T; Kim, Hyoung-Il HI; Cheong, Jae-Ho JH; Hyung, Woo Jin WJ; Park, Jun Chul JC; Shin, Sung Kwan SK; Lee, Sang Kil SK; Lee, Yong Chan YC; Koom, Woong Sub WS; Lim, Joon Seok JS; Chung, Hyun Cheol HC; Noh, Sung Hoon SH; Rha, Sun Young SY; Kim, Hyunki H; Paik, Soonmyung S
Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.
Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
NRAS and EPHB6 mutation rates differ in metastatic melanomas of patients in the North Island versus South Island of New Zealand.
Oncotarget
Jones, Angela M AM; Ferguson, Peter P; Gardner, Jacqui J; Rooker, Serena S; Sutton, Tim T; Ahn, Antonio A; Chatterjee, Aniruddha A; Bickley, Vivienne M VM; Sarwar, Makhdoom M; Emanuel, Patrick P; Kenwright, Diane D; Shepherd, Peter R PR; Eccles, Michael R MR
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Patient-derived cell models as preclinical tools for genome-directed targeted therapy.
Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Targeted next generation sequencing identifies clinically actionable mutations in patients with melanoma.
Pigment Cell & Melanoma Research
Jeck, William R WR; Parker, Joel J; Carson, Craig C CC; Shields, Janiel M JM; Sambade, Maria J MJ; Peters, Eldon C EC; Burd, Christin E CE; Thomas, Nancy E NE; Chiang, Derek Y DY; Liu, Wenjin W; Eberhard, David A DA; Ollila, David D; Grilley-Olson, Juneko J; Moschos, Stergios S; Neil Hayes, D D; Sharpless, Norman E NE
BRAF kinase domain mutations are present in a subset of chronic myelomonocytic leukemia with wild-type RAS.
American Journal Of Hematology
Zhang, Liping L; Singh, Rajesh R RR; Patel, Keyur P KP; Stingo, Francesco F; Routbort, Mark M; You, M James MJ; Miranda, Roberto N RN; Garcia-Manero, Guillermo G; Kantarjian, Hagop M HM; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R; Khoury, Joseph D JD
BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Hutchinson, Katherine E KE; Lipson, Doron D; Stephens, Philip J PJ; Otto, Geoff G; Lehmann, Brian D BD; Lyle, Pamela L PL; Vnencak-Jones, Cindy L CL; Ross, Jeffrey S JS; Pietenpol, Jennifer A JA; Sosman, Jeffrey A JA; Puzanov, Igor I; Miller, Vincent A VA; Pao, William W
Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel.
Plos One
Scarpa, Aldo A; Sikora, Katarzyna K; Fassan, Matteo M; Rachiglio, Anna Maria AM; Cappellesso, Rocco R; Antonello, Davide D; Amato, Eliana E; Mafficini, Andrea A; Lambiase, Matilde M; Esposito, Claudia C; Bria, Emilio E; Simonato, Francesca F; Scardoni, Maria M; Turri, Giona G; Chilosi, Marco M; Tortora, Giampaolo G; Fassina, Ambrogio A; Normanno, Nicola N