Publications:

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The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Journal Of Translational Medicine

Díaz de Ståhl, Teresita T; Shamikh, Alia A; Mayrhofer, Markus M; Juhos, Szilvester S; Basmaci, Elisa E; Prochazka, Gabriela G; Garcia, Maxime M; Somarajan, Praveen Raj PR; Zielinska-Chomej, Katarzyna K; Illies, Christopher C; Øra, Ingrid I; Siesjö, Peter P; Sandström, Per-Erik PE; Stenman, Jakob J; Sabel, Magnus M; Gustavsson, Bengt B; Kogner, Per P; Pfeifer, Susan S; Ljungman, Gustaf G; Sandgren, Johanna J; Nistér, Monica M

Publication Date: 2023-05-23

Variant appearance in text: DICER1: Arg509Ter; rs886037672

PubMed Link: 37221626

Variant Present in the following documents:

• Main text
• 12967_2023_Article_4178.pdf

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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: DICER1: 1525C>T; Arg509Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology

Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022

Variant appearance in text: DICER1: R509*

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-11

Variant appearance in text: DICER1: 1525C>T; Arg509Ter

PubMed Link: 35986592

Variant Present in the following documents:

• CJP2-8-579.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: DICER1: R509X

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research

Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD

Publication Date: 2022-05

Variant appearance in text: DICER1: 1525C>T; Arg509Ter

PubMed Link: 35297207

Variant Present in the following documents:

• CJP2-8-294-s001.pdf

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: DICER1: R509X

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.

Jco Precision Oncology

Schienda, Jaclyn J; Church, Alanna J AJ; Corson, Laura B LB; Decker, Brennan B; Clinton, Catherine M CM; Manning, Danielle K DK; Imamovic-Tuco, Alma A; Reidy, Deirdre D; Strand, Gianna R GR; Applebaum, Mark A MA; Bagatell, Rochelle R; DuBois, Steven G SG; Glade-Bender, Julia L JL; Kang, Wenjun W; Kim, AeRang A; Laetsch, Theodore W TW; Macy, Margaret E ME; Maese, Luke L; Pinto, Navin N; Sabnis, Amit J AJ; Schiffman, Joshua D JD; Colace, Susan I SI; Volchenboum, Samuel L SL; Weiser, Daniel A DA; Nowak, Jonathan A JA; Lindeman, Neal I NI; Janeway, Katherine A KA; Crompton, Brian D BD; Kamihara, Junne J

Publication Date: 2021

Variant appearance in text: DICER1: R509*

PubMed Link: 34964003

Variant Present in the following documents:

• po-5-po.21.00281.pdf

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Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Pharmacogenomics And Personalized Medicine

Ni, Yanglin Y; Zhou, Xuan X; Wu, Ling L; Wu, Ping P; Liu, Ying Y; Li, Yinnan Y; Cai, Li L; Fu, Xueshu X; Zhang, Chunhua C

Publication Date: 2021

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 34377011

Variant Present in the following documents:

• Main text
• pgpm-14-947.pdf

View BVdb publication page

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Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

Journal Of Clinical Medicine

De Paolis, Elisa E; Paragliola, Rosa Maria RM; Concolino, Paola P

Publication Date: 2021-04-23

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 33922805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.

Cancers

van Peer, Sophie E SE; Pleijte, Corine J H CJH; de Krijger, Ronald R RR; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Lilien, Marc R MR; van Grotel, Martine M; Graf, Norbert N; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA

Publication Date: 2021-02-27

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 33673661

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Jama Network Open

Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR

Publication Date: 2021-02-01

Variant appearance in text: DICER1: 1525C>T; Arg509Ter

PubMed Link: 33630087

Variant Present in the following documents:

• Main text
• jamanetwopen-e210112-s001.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: DICER1: 1525C>T; R509*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2020-07-31

Variant appearance in text: DICER1: 1525C>T; R509*

PubMed Link: 32736587

Variant Present in the following documents:

• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: DICER1: R509*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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DICER1-Related Embryonal Rhabdomyosarcoma of the Uterine Corpus in a Prepubertal Girl.

Journal Of Pediatric And Adolescent Gynecology

Dural, Ozlem O; Kebudi, Rejin R; Yavuz, Ekrem E; Yilmaz, Ismail I; Buyukkapu Bay, Sema S; Schultz, Kris Ann P KAP; Hill, D Ashley DA

Publication Date: 2020-04

Variant appearance in text: DICER1: 1525C>T; Arg509*

PubMed Link: 31838154

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pineoblastoma segregates into molecular sub-groups with distinct clinico-pathologic features: a Rare Brain Tumor Consortium registry study.

Acta Neuropathologica

Li, Bryan K BK; Vasiljevic, Alexandre A; Dufour, Christelle C; Yao, Fupan F; Ho, Ben L B BLB; Lu, Mei M; Hwang, Eugene I EI; Gururangan, Sridharan S; Hansford, Jordan R JR; Fouladi, Maryam M; Nobusawa, Sumihito S; Laquerriere, Annie A; Delisle, Marie-Bernadette MB; Fangusaro, Jason J; Forest, Fabien F; Toledano, Helen H; Solano-Paez, Palma P; Leary, Sarah S; Birks, Diane D; Hoffman, Lindsey M LM; Szathmari, Alexandru A; Faure-Conter, Cécile C; Fan, Xing X; Catchpoole, Daniel D; Zhou, Li L; Schultz, Kris Ann P KAP; Ichimura, Koichi K; Gauchotte, Guillaume G; Jabado, Nada N; Jones, Chris C; Loussouarn, Delphine D; Mokhtari, Karima K; Rousseau, Audrey A; Ziegler, David S DS; Tanaka, Shinya S; Pomeroy, Scott L SL; Gajjar, Amar A; Ramaswamy, Vijay V; Hawkins, Cynthia C; Grundy, Richard G RG; Hill, D Ashley DA; Bouffet, Eric E; Huang, Annie A; Jouvet, Anne A

Publication Date: 2020-02

Variant appearance in text: DICER1: R509*

PubMed Link: 31820118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: DICER1: R509*

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Nature Communications

Vedanayagam, Jeffrey J; Chatila, Walid K WK; Aksoy, Bülent Arman BA; Majumdar, Sonali S; Skanderup, Anders Jacobsen AJ; Demir, Emek E; Schultz, Nikolaus N; Sander, Chris C; Lai, Eric C EC

Publication Date: 2019-08-15

Variant appearance in text: DICER1: R509*

PubMed Link: 31417090

Variant Present in the following documents:

• 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_11610_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: DICER1: 1525C>T; R509*

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers

Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT

Publication Date: 2018-05-15

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 29762508

Variant Present in the following documents:

• Main text
• cancers-10-00143.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: DICER1: R509*

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

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Dysregulation of microRNA biogenesis machinery in cancer.

Critical Reviews In Biochemistry And Molecular Biology

Hata, Akiko A; Kashima, Risa R

Publication Date: 2016

Variant appearance in text: Dicer: R509*

PubMed Link: 26628006

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2015-12

Variant appearance in text: DICER1: 1525C>T; R509*

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Acta Neuropathologica

de Kock, Leanne L; Sabbaghian, Nelly N; Plourde, François F; Srivastava, Archana A; Weber, Evan E; Bouron-Dal Soglio, Dorothée D; Hamel, Nancy N; Choi, Joon Hyuk JH; Park, Sung-Hye SH; Deal, Cheri L CL; Kelsey, Megan M MM; Dishop, Megan K MK; Esbenshade, Adam A; Kuttesch, John F JF; Jacques, Thomas S TS; Perry, Arie A; Leichter, Heinz H; Maeder, Philippe P; Brundler, Marie-Anne MA; Warner, Justin J; Neal, James J; Zacharin, Margaret M; Korbonits, Márta M; Cole, Trevor T; Traunecker, Heidi H; McLean, Thomas W TW; Rotondo, Fabio F; Lepage, Pierre P; Albrecht, Steffen S; Horvath, Eva E; Kovacs, Kalman K; Priest, John R JR; Foulkes, William D WD

Publication Date: 2014-07

Variant appearance in text: DICER1: Arg509*

PubMed Link: 24839956

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports

Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T

Publication Date: 2014-04-03

Variant appearance in text: DICER1: 1525C>T; Arg509*

PubMed Link: 24708902

Variant Present in the following documents:

• Main text
• 1752-1947-8-112.pdf

View BVdb publication page

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DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Doros, Leslie A LA; Rossi, Christopher T CT; Yang, Jiandong J; Field, Amanda A; Williams, Gretchen M GM; Messinger, Yoav Y; Cajaiba, Mariana M MM; Perlman, Elizabeth J EJ; A Schultz, Kris K; Cathro, Helen P HP; Legallo, Robin D RD; LaFortune, Kristin A KA; Chikwava, Kudakwashe R KR; Faria, Paulo P; Geller, James I JI; Dome, Jeffrey S JS; Mullen, Elizabeth A EA; Gratias, Eric J EJ; Dehner, Louis P LP; Hill, D Ashley DA

Publication Date: 2014-09

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 24481001

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel DICER1 mutation as cause of multinodular goiter in children.

Head & Neck

Darrat, Ilaaf I; Bedoyan, Jirair K JK; Chen, Ming M; Schuette, Jane L JL; Lesperance, Marci M MM

Publication Date: 2013-12

Variant appearance in text: DICER1: 1525C>T

PubMed Link: 23728841

Variant Present in the following documents:

• Main text

View BVdb publication page

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