182 related articles for article (PubMed ID: 37507557)
1. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C; Faust U; Krauße L; Liebmann A; Abele M; Demidov G; Schütz L; Kelemen O; Pohle A; Gauß S; Sturm M; Roggia C; Streiter M; Buchert R; Armenau-Ebinger S; Nann D; Beschorner R; Handgretinger R; Ebinger M; Lang P; Holzer U; Skokowa J; Ossowski S; Haack TB; Mau-Holzmann UA; Dufke A; Riess O; Brecht IB
Eur J Hum Genet; 2023 Oct; 31(10):1139-1146. PubMed ID: 37507557
[TBL] [Abstract][Full Text] [Related]
2. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline
Hatton JN; Frone MN; Cox HC; Crowley SB; Hiraki S; Yokoyama NN; Abul-Husn NS; Amatruda JF; Anderson MJ; Bofill-De Ros X; Carr AG; Chao EC; Chen KS; Gu S; Higgs C; Machado J; Ritter D; Schultz KA; Soper ER; Wu MK; Mester JL; Kim J; Foulkes WD; Witkowski L; Stewart DR
Hum Mutat; 2023; 2023():. PubMed ID: 38084291
[TBL] [Abstract][Full Text] [Related]
3. DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.
Apellaniz-Ruiz M; Cullinan N; Grant R; Marrano P; Priest JR; Thorner PS; Goudie C; Foulkes WD
J Pathol Clin Res; 2020 Jul; 6(3):185-194. PubMed ID: 32222066
[TBL] [Abstract][Full Text] [Related]
4. A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Mirshahi UL; Kim J; Best AF; Chen ZE; Hu Y; Haley JS; Golden A; Stahl R; Manickam K; Carr AG; Harney LA; Field A; Hatton J; Schultz KAP; Bauer AJ; Hill DA; Rosenberg PS; Murray MF; Carey DJ; Stewart DR
JAMA Netw Open; 2021 Feb; 4(2):e210112. PubMed ID: 33630087
[TBL] [Abstract][Full Text] [Related]
5. Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J; Gianferante M; Karyadi DM; Hartley SW; Frone MN; Luo W; Robison LL; Armstrong GT; Bhatia S; Dean M; Yeager M; Zhu B; Song L; Sampson JN; Yasui Y; Leisenring WM; Brodie SA; de Andrade KC; Fortes FP; Goldstein AM; Khincha PP; Machiela MJ; McMaster ML; Nickerson ML; Oba L; Pemov A; Pinheiro M; Rotunno M; Santiago K; Wegman-Ostrosky T; Diver WR; Teras L; Freedman ND; Hicks BD; Zhu B; Wang M; Jones K; Hutchinson AA; Dagnall C; Savage SA; Tucker MA; Chanock SJ; Morton LM; Stewart DR; Mirabello L
JNCI Cancer Spectr; 2021 Apr; 5(2):. PubMed ID: 34308104
[TBL] [Abstract][Full Text] [Related]
6. Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.
Azzollini J; Ferrari A; Stracuzzi A; Chiaravalli S; Terenziani M; Spreafico F; Grasso M; Collini P; Pensotti V; Massimino M; Arbustini E; Manoukian S
Tumori; 2021 Dec; 107(6):NP144-NP148. PubMed ID: 34761719
[TBL] [Abstract][Full Text] [Related]
7. Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.
Vasta LM; McMaster ML; Harney LA; Ling A; Kim J; Harris AK; Carr AG; Damrauer SM; Rader DJ; Kember RL; Kanetsky PA; Nathanson KL; Pyle LC; Greene MH; Schultz KA; Stewart DR;
Cancer Genet; 2020 Oct; 248-249():49-56. PubMed ID: 33158809
[TBL] [Abstract][Full Text] [Related]
8. Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.
Oliver-Petit I; Bertozzi AI; Grunenwald S; Gambart M; Pigeon-Kerchiche P; Sadoul JL; Caron PJ; Savagner F
Clin Endocrinol (Oxf); 2019 Nov; 91(5):669-675. PubMed ID: 31408196
[TBL] [Abstract][Full Text] [Related]
9. Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Roggia C; Armeanu-Ebinger S; Gschwind A; Seibel-Kelemen O; Hertler S; Faust U; Liebmann A; Haack TB; Neumann M; Bonzheim I; Forschner A; Kopp HG; Herster F; Hartkopf A; Bitzer M; Malek NP; Brecht IB; Ruhm K; Möller Y; Löwenheim H; Ossowski S; Rieß OH; Schroeder C
Eur J Cancer; 2023 Jan; 179():48-55. PubMed ID: 36495689
[TBL] [Abstract][Full Text] [Related]
10. Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature.
Sylvester DE; Chen Y; Jamieson RV; Dalla-Pozza L; Byrne JA
J Med Genet; 2018 Dec; 55(12):785-793. PubMed ID: 30287599
[TBL] [Abstract][Full Text] [Related]
11. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
Slade I; Bacchelli C; Davies H; Murray A; Abbaszadeh F; Hanks S; Barfoot R; Burke A; Chisholm J; Hewitt M; Jenkinson H; King D; Morland B; Pizer B; Prescott K; Saggar A; Side L; Traunecker H; Vaidya S; Ward P; Futreal PA; Vujanic G; Nicholson AG; Sebire N; Turnbull C; Priest JR; Pritchard-Jones K; Houlston R; Stiller C; Stratton MR; Douglas J; Rahman N
J Med Genet; 2011 Apr; 48(4):273-8. PubMed ID: 21266384
[TBL] [Abstract][Full Text] [Related]
12. Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.
de Kock L; Wu MK; Foulkes WD
Hum Mutat; 2019 Nov; 40(11):1939-1953. PubMed ID: 31342592
[TBL] [Abstract][Full Text] [Related]
13. DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know.
Faure A; Atkinson J; Bouty A; O'Brien M; Levard G; Hutson J; Heloury Y
J Pediatr Urol; 2016 Feb; 12(1):5-10. PubMed ID: 26454454
[TBL] [Abstract][Full Text] [Related]
14. A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.
Pontén E; Frisk S; Taylan F; Vaz R; Wessman S; de Kock L; Pal N; Foulkes WD; Lagerstedt-Robinson K; Nordgren A
J Med Genet; 2022 Feb; 59(2):141-146. PubMed ID: 33208384
[TBL] [Abstract][Full Text] [Related]
15. The prevalence of DICER1 pathogenic variation in population databases.
Kim J; Field A; Schultz KAP; Hill DA; Stewart DR
Int J Cancer; 2017 Nov; 141(10):2030-2036. PubMed ID: 28748527
[TBL] [Abstract][Full Text] [Related]
16. Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study.
Fuentes Bolanos NA; Padhye B; Daley M; Hunter J; Hetherington K; Warby M; Courtney E; Kirk J; Josephi-Taylor S; Chen Y; Alvaro F; Barlow-Stewart K; Wong-Erasmus M; Barahona P; Ajuyah P; Altekoester AK; Tyrrell VJ; Lau LMS; Wakefield C; Sylvester D; Tucker K; Pinese M; Dalla Pozza L; O'Brien TA
BMJ Open; 2023 May; 13(5):e070082. PubMed ID: 37253493
[TBL] [Abstract][Full Text] [Related]
17. Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour.
Palculict TB; Ruteshouser EC; Fan Y; Wang W; Strong L; Huff V
J Med Genet; 2016 Jun; 53(6):385-8. PubMed ID: 26566882
[TBL] [Abstract][Full Text] [Related]
18. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A; Hansen TVO; Stoltze UK; Mehrjouy MM; Barnkob NM; Hjalgrim LL; Mathiasen R; Lautrup CK; Gregersen PA; Hasle H; Wehner PS; Tuckuviene R; Sackett PW; Laspiur AO; Rossing M; Marvig RL; Tommerup N; Olsen TE; Scheie D; Gupta R; Gerdes AM; Schmiegelow K; Wadt K
PLoS Genet; 2020 Dec; 16(12):e1009231. PubMed ID: 33332384
[TBL] [Abstract][Full Text] [Related]
19. Structural renal abnormalities in the DICER1 syndrome: a family-based cohort study.
Khan NE; Ling A; Raske ME; Harney LA; Carr AG; Field A; Harris AK; Williams GM; Dehner LP; Messinger YH; Hill DA; Schultz KAP; Stewart DR
Pediatr Nephrol; 2018 Dec; 33(12):2281-2288. PubMed ID: 30178239
[TBL] [Abstract][Full Text] [Related]
20. Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers.
Yoshida M; Nakabayashi K; Yang W; Sato-Otsubo A; Tsujimoto SI; Ogata-Kawata H; Kawai T; Ishiwata K; Sakamoto M; Okamura K; Yoshida K; Shirai R; Osumi T; Kiyotani C; Shioda Y; Terashima K; Ishimaru S; Yuza Y; Takagi M; Arakawa Y; Imamura T; Hasegawa D; Inoue A; Yoshioka T; Ito S; Tomizawa D; Koh K; Matsumoto K; Kiyokawa N; Ogawa S; Manabe A; Niwa A; Hata K; Yang JJ; Kato M
Cancer Med; 2023 May; 12(10):11264-11273. PubMed ID: 37021926
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
