Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome

被引：6

作者：

de Kock, Leanne ^{[1
,2
]}

Hillmer, Morten ^{[3
,4
]}

Wagener, Rabea ^{[3
,4
]}

Bouron-Dal Soglio, Dorothee ^{[5
,6
]}

Sabbaghian, Nelly ^{[2
]}

Siebert, Reiner ^{[3
,4
]}

Priest, John R.

Miller, Michal ^{[7
]}

Foulkes, William D. ^{[1
,2
,8
]}

机构：

[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[2] Jewish Gen Hosp, Lady Davis Inst, Segal Canc Ctr, Montreal, PQ, Canada

[3] Ulm Univ, Inst Human Genet, Ulm, Germany

[4] Ulm Univ, Med Ctr, Ulm, Germany

[5] CHU St Justine, Dept Pathol, Montreal, PQ, Canada

[6] Univ Montreal, Dept Pathol & Cellular Biol, Fac Med, Montreal, PQ, Canada

[7] Geisinger Med Ctr, Dept Pediat, Danville, PA 17822 USA

[8] McGill Univ, Ctr Hlth, Res Inst, Dept Med Genet, Montreal, PQ, Canada

来源：

GENES CHROMOSOMES & CANCER | 2019年 / 58卷 / 08期

关键词：

MUTATIONS; TUMORS;

D O I：

10.1002/gcc.22728

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：602 / 604

页数：3

共 7 条

[1] Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion [J].

Apellaniz-Ruiz, Maria ;

de Kock, Leanne ;

Sabbaghian, Nelly ;

Guaraldi, Federica ;

Ghizzoni, Lucia ;

Beccuti, Guglielmo ;

Foulkes, William D. .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2018, 178 (02) :K11-K19

[2] Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion [J].

de Kock, Leanne ;

Geoffrion, Dominique ;

Rivera, Barbara ;

Wagener, Rabea ;

Sabbaghian, Nelly ;

Bens, Susanne ;

Ellezam, Benjamin ;

Bouron-Dal Soglio, Dorothee ;

Ordonez, Jessica ;

Sacharow, Stephanie ;

Polo Nieto, Jose Fernando ;

Guillerman, R. Paul ;

Vujanic, Gordan M. ;

Priest, John R. ;

Siebert, Reiner ;

Foulkes, William D. .

GENES CHROMOSOMES & CANCER, 2018, 57 (05) :223-230

[3] DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors [J].

de Kock, Leanne ;

Terzic, Tatjana ;

McCluggage, W. Glenn ;

Stewart, Colin J. R. ;

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Foulkes, William D. ;

Clarke, Blaise A. .

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[4] DICER1: mutations, microRNAs and mechanisms [J].

Foulkes, William D. ;

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Duchaine, Thomas E. .

NATURE REVIEWS CANCER, 2014, 14 (10) :662-672

[5] Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors [J].

Herriges, John C. ;

Brown, Sara ;

Longhurst, Maria ;

Ozmore, Jillian ;

Moeschler, John B. ;

Janze, Aura ;

Meck, Jeanne ;

South, Sarah T. ;

Andersen, Erica F. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (01) :9-14

[6] Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides [J].

Sabbaghian, Nelly ;

Srivastava, Archana ;

Hamel, Nancy ;

Plourde, Francois ;

Gajtko-Metera, Malgorzata ;

Niedziela, Marek ;

Foulkes, William D. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) :564-567

[7] DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center [J].

van Engelen, Kalene ;

Villani, Anita ;

Wasserman, Jonathan D. ;

Aronoff, Laura ;

Greer, Mary-Louise C. ;

Bueno, Marta Tijerin ;

Gallinger, Bailey ;

Kim, Raymond H. ;

Grant, Ronald ;

Meyn, M. Stephen ;

Malkin, David ;

Druker, Harriet .

PEDIATRIC BLOOD & CANCER, 2018, 65 (01)

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