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DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

BackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced DICER1 in constitutional DNA... Full description

Journal Title: Journal of medical genetics 2011-04, Vol.48 (4), p.273-278
Main Author: Slade, Ingrid
Other Authors: Bacchelli, Chiara , Davies, Helen , Murray, Anne , Abbaszadeh, Fatemeh , Hanks, Sandra , Barfoot, Rita , Burke, Amos , Chisholm, Julia , Hewitt, Martin , Jenkinson, Helen , King, Derek , Morland, Bruce , Pizer, Barry , Prescott, Katrina , Saggar, Anand , Side, Lucy , Traunecker, Heidi , Vaidya, Sucheta , Ward, Paul , Futreal, P Andrew , Vujanic, Gordan , Nicholson, Andrew G , Sebire, Neil , Turnbull, Clare , Priest, John R , Pritchard-Jones, Kathryn , Houlston, Richard , Stiller, Charles , Stratton, Michael R , Douglas, Jenny , Rahman, Nazneen
Format: Electronic Article Electronic Article
Language: English
Subjects:
DNA
Quelle: Alma/SFX Local Collection
Publisher: London: BMJ Publishing Group Ltd
ID: ISSN: 0022-2593
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title: DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
format: Article
creator:
  • Slade, Ingrid
  • Bacchelli, Chiara
  • Davies, Helen
  • Murray, Anne
  • Abbaszadeh, Fatemeh
  • Hanks, Sandra
  • Barfoot, Rita
  • Burke, Amos
  • Chisholm, Julia
  • Hewitt, Martin
  • Jenkinson, Helen
  • King, Derek
  • Morland, Bruce
  • Pizer, Barry
  • Prescott, Katrina
  • Saggar, Anand
  • Side, Lucy
  • Traunecker, Heidi
  • Vaidya, Sucheta
  • Ward, Paul
  • Futreal, P Andrew
  • Vujanic, Gordan
  • Nicholson, Andrew G
  • Sebire, Neil
  • Turnbull, Clare
  • Priest, John R
  • Pritchard-Jones, Kathryn
  • Houlston, Richard
  • Stiller, Charles
  • Stratton, Michael R
  • Douglas, Jenny
  • Rahman, Nazneen
subjects:
  • Biological and medical sciences
  • cancer syndrome
  • Cardiology. Vascular system
  • Cell Line, Tumor
  • Clinical genetics
  • Cysts
  • DEAD-box RNA Helicases - genetics
  • Deoxyribonucleic acid
  • Diagnosis
  • DICER1
  • DNA
  • endocrine system
  • Fundamental and applied biological sciences. Psychology
  • Gene expression
  • Gene mutations
  • General aspects. Genetic counseling
  • Genetic aspects
  • Genetic Predisposition to Disease
  • Genetics
  • Genetics of eukaryotes. Biological and molecular evolution
  • Genomes
  • Germ-Line Mutation
  • Haploinsufficiency
  • Humans
  • Lung cancer
  • Medical genetics
  • Medical research
  • Medical sciences
  • microRNA
  • Molecular and cellular biology
  • Molecular Sequence Data
  • Mutation
  • Neoplasms - diagnosis
  • Neoplasms - genetics
  • Oncology
  • Paediatric oncology
  • Pleiotropy
  • Ribonuclease III - genetics
  • Risk factors
  • Sequence Analysis, DNA
  • Surveillance
  • Syndrome
  • Thyroid cancer
  • Tumors
  • tumour predisposition
ispartof: Journal of medical genetics, 2011-04, Vol.48 (4), p.273-278
description: BackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Constitutional DICER1 mutations were identified in 19 families including 11/14 with PPB, 2/3 with cystic nephroma, 4/7 with ovarian Sertoli–Leydig-type tumours, 1/243 with Wilms tumour (this patient also had a Sertoli–Leydig tumour), 1/1 with intraocular medulloepithelioma (this patient also had PPB), 1/86 with medulloblastoma/infratentorial primitive neuroectodermal tumour, and 1/172 with germ cell tumour. The inheritance was investigated in 17 families. DICER1 mutations were identified in 25 relatives: 17 were unaffected, one mother had ovarian Sertoli–Leydig tumour, one half-sibling had cystic nephroma, and six relatives had non-toxic thyroid cysts/goitre. Analysis of eight tumours from DICER1 mutation-positive patients showed universal retention of the wild-type allele. DICER1 truncating mutations were identified in 4/781 cancer cell lines; all were in microsatellite unstable lines and therefore unlikely to be driver mutations.ConclusionConstitutional DICER1 haploinsufficiency predisposes to a broad range of tumours, making a substantial contribution to PPB, cystic nephroma and ovarian Sertoli–Leydig tumours, but a smaller contribution to other tumours. Most mutation carriers are unaffected, indicating that tumour risk is modest. The authors define the clinical contexts in which DICER1 mutation testing should be considered, the associated tumour risks, and the implications for at-risk individuals. They have termed this condition ‘DICER1 syndrome’.Accession numbersThe cDNA Genbank accession number for the DICER1 sequence reported in this paper is NM_030621.2.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0022-2593
fulltext: fulltext
issn:
  • 0022-2593
  • 1468-6244
url: Link


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titleDICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
sourceAlma/SFX Local Collection
creatorSlade, Ingrid ; Bacchelli, Chiara ; Davies, Helen ; Murray, Anne ; Abbaszadeh, Fatemeh ; Hanks, Sandra ; Barfoot, Rita ; Burke, Amos ; Chisholm, Julia ; Hewitt, Martin ; Jenkinson, Helen ; King, Derek ; Morland, Bruce ; Pizer, Barry ; Prescott, Katrina ; Saggar, Anand ; Side, Lucy ; Traunecker, Heidi ; Vaidya, Sucheta ; Ward, Paul ; Futreal, P Andrew ; Vujanic, Gordan ; Nicholson, Andrew G ; Sebire, Neil ; Turnbull, Clare ; Priest, John R ; Pritchard-Jones, Kathryn ; Houlston, Richard ; Stiller, Charles ; Stratton, Michael R ; Douglas, Jenny ; Rahman, Nazneen
creatorcontribSlade, Ingrid ; Bacchelli, Chiara ; Davies, Helen ; Murray, Anne ; Abbaszadeh, Fatemeh ; Hanks, Sandra ; Barfoot, Rita ; Burke, Amos ; Chisholm, Julia ; Hewitt, Martin ; Jenkinson, Helen ; King, Derek ; Morland, Bruce ; Pizer, Barry ; Prescott, Katrina ; Saggar, Anand ; Side, Lucy ; Traunecker, Heidi ; Vaidya, Sucheta ; Ward, Paul ; Futreal, P Andrew ; Vujanic, Gordan ; Nicholson, Andrew G ; Sebire, Neil ; Turnbull, Clare ; Priest, John R ; Pritchard-Jones, Kathryn ; Houlston, Richard ; Stiller, Charles ; Stratton, Michael R ; Douglas, Jenny ; Rahman, Nazneen
descriptionBackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Constitutional DICER1 mutations were identified in 19 families including 11/14 with PPB, 2/3 with cystic nephroma, 4/7 with ovarian Sertoli–Leydig-type tumours, 1/243 with Wilms tumour (this patient also had a Sertoli–Leydig tumour), 1/1 with intraocular medulloepithelioma (this patient also had PPB), 1/86 with medulloblastoma/infratentorial primitive neuroectodermal tumour, and 1/172 with germ cell tumour. The inheritance was investigated in 17 families. DICER1 mutations were identified in 25 relatives: 17 were unaffected, one mother had ovarian Sertoli–Leydig tumour, one half-sibling had cystic nephroma, and six relatives had non-toxic thyroid cysts/goitre. Analysis of eight tumours from DICER1 mutation-positive patients showed universal retention of the wild-type allele. DICER1 truncating mutations were identified in 4/781 cancer cell lines; all were in microsatellite unstable lines and therefore unlikely to be driver mutations.ConclusionConstitutional DICER1 haploinsufficiency predisposes to a broad range of tumours, making a substantial contribution to PPB, cystic nephroma and ovarian Sertoli–Leydig tumours, but a smaller contribution to other tumours. Most mutation carriers are unaffected, indicating that tumour risk is modest. The authors define the clinical contexts in which DICER1 mutation testing should be considered, the associated tumour risks, and the implications for at-risk individuals. They have termed this condition ‘DICER1 syndrome’.Accession numbersThe cDNA Genbank accession number for the DICER1 sequence reported in this paper is NM_030621.2.
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languageeng
publisherLondon: BMJ Publishing Group Ltd
subjectBiological and medical sciences ; cancer syndrome ; Cardiology. Vascular system ; Cell Line, Tumor ; Clinical genetics ; Cysts ; DEAD-box RNA Helicases - genetics ; Deoxyribonucleic acid ; Diagnosis ; DICER1 ; DNA ; endocrine system ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene mutations ; General aspects. Genetic counseling ; Genetic aspects ; Genetic Predisposition to Disease ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Germ-Line Mutation ; Haploinsufficiency ; Humans ; Lung cancer ; Medical genetics ; Medical research ; Medical sciences ; microRNA ; Molecular and cellular biology ; Molecular Sequence Data ; Mutation ; Neoplasms - diagnosis ; Neoplasms - genetics ; Oncology ; Paediatric oncology ; Pleiotropy ; Ribonuclease III - genetics ; Risk factors ; Sequence Analysis, DNA ; Surveillance ; Syndrome ; Thyroid cancer ; Tumors ; tumour predisposition
ispartofJournal of medical genetics, 2011-04, Vol.48 (4), p.273-278
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02011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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2Copyright: 2011 (c) 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
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0Slade, Ingrid
1Bacchelli, Chiara
2Davies, Helen
3Murray, Anne
4Abbaszadeh, Fatemeh
5Hanks, Sandra
6Barfoot, Rita
7Burke, Amos
8Chisholm, Julia
9Hewitt, Martin
10Jenkinson, Helen
11King, Derek
12Morland, Bruce
13Pizer, Barry
14Prescott, Katrina
15Saggar, Anand
16Side, Lucy
17Traunecker, Heidi
18Vaidya, Sucheta
19Ward, Paul
20Futreal, P Andrew
21Vujanic, Gordan
22Nicholson, Andrew G
23Sebire, Neil
24Turnbull, Clare
25Priest, John R
26Pritchard-Jones, Kathryn
27Houlston, Richard
28Stiller, Charles
29Stratton, Michael R
30Douglas, Jenny
31Rahman, Nazneen
title
0DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
1Journal of medical genetics
addtitleJ Med Genet
descriptionBackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Constitutional DICER1 mutations were identified in 19 families including 11/14 with PPB, 2/3 with cystic nephroma, 4/7 with ovarian Sertoli–Leydig-type tumours, 1/243 with Wilms tumour (this patient also had a Sertoli–Leydig tumour), 1/1 with intraocular medulloepithelioma (this patient also had PPB), 1/86 with medulloblastoma/infratentorial primitive neuroectodermal tumour, and 1/172 with germ cell tumour. The inheritance was investigated in 17 families. DICER1 mutations were identified in 25 relatives: 17 were unaffected, one mother had ovarian Sertoli–Leydig tumour, one half-sibling had cystic nephroma, and six relatives had non-toxic thyroid cysts/goitre. Analysis of eight tumours from DICER1 mutation-positive patients showed universal retention of the wild-type allele. DICER1 truncating mutations were identified in 4/781 cancer cell lines; all were in microsatellite unstable lines and therefore unlikely to be driver mutations.ConclusionConstitutional DICER1 haploinsufficiency predisposes to a broad range of tumours, making a substantial contribution to PPB, cystic nephroma and ovarian Sertoli–Leydig tumours, but a smaller contribution to other tumours. Most mutation carriers are unaffected, indicating that tumour risk is modest. The authors define the clinical contexts in which DICER1 mutation testing should be considered, the associated tumour risks, and the implications for at-risk individuals. They have termed this condition ‘DICER1 syndrome’.Accession numbersThe cDNA Genbank accession number for the DICER1 sequence reported in this paper is NM_030621.2.
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0Biological and medical sciences
1cancer syndrome
2Cardiology. Vascular system
3Cell Line, Tumor
4Clinical genetics
5Cysts
6DEAD-box RNA Helicases - genetics
7Deoxyribonucleic acid
8Diagnosis
9DICER1
10DNA
11endocrine system
12Fundamental and applied biological sciences. Psychology
13Gene expression
14Gene mutations
15General aspects. Genetic counseling
16Genetic aspects
17Genetic Predisposition to Disease
18Genetics
19Genetics of eukaryotes. Biological and molecular evolution
20Genomes
21Germ-Line Mutation
22Haploinsufficiency
23Humans
24Lung cancer
25Medical genetics
26Medical research
27Medical sciences
28microRNA
29Molecular and cellular biology
30Molecular Sequence Data
31Mutation
32Neoplasms - diagnosis
33Neoplasms - genetics
34Oncology
35Paediatric oncology
36Pleiotropy
37Ribonuclease III - genetics
38Risk factors
39Sequence Analysis, DNA
40Surveillance
41Syndrome
42Thyroid cancer
43Tumors
44tumour predisposition
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8Chisholm, Julia
9Hewitt, Martin
10Jenkinson, Helen
11King, Derek
12Morland, Bruce
13Pizer, Barry
14Prescott, Katrina
15Saggar, Anand
16Side, Lucy
17Traunecker, Heidi
18Vaidya, Sucheta
19Ward, Paul
20Futreal, P Andrew
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23Sebire, Neil
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titleDICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
authorSlade, Ingrid ; Bacchelli, Chiara ; Davies, Helen ; Murray, Anne ; Abbaszadeh, Fatemeh ; Hanks, Sandra ; Barfoot, Rita ; Burke, Amos ; Chisholm, Julia ; Hewitt, Martin ; Jenkinson, Helen ; King, Derek ; Morland, Bruce ; Pizer, Barry ; Prescott, Katrina ; Saggar, Anand ; Side, Lucy ; Traunecker, Heidi ; Vaidya, Sucheta ; Ward, Paul ; Futreal, P Andrew ; Vujanic, Gordan ; Nicholson, Andrew G ; Sebire, Neil ; Turnbull, Clare ; Priest, John R ; Pritchard-Jones, Kathryn ; Houlston, Richard ; Stiller, Charles ; Stratton, Michael R ; Douglas, Jenny ; Rahman, Nazneen
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0Biological and medical sciences
1cancer syndrome
2Cardiology. Vascular system
3Cell Line, Tumor
4Clinical genetics
5Cysts
6DEAD-box RNA Helicases - genetics
7Deoxyribonucleic acid
8Diagnosis
9DICER1
10DNA
11endocrine system
12Fundamental and applied biological sciences. Psychology
13Gene expression
14Gene mutations
15General aspects. Genetic counseling
16Genetic aspects
17Genetic Predisposition to Disease
18Genetics
19Genetics of eukaryotes. Biological and molecular evolution
20Genomes
21Germ-Line Mutation
22Haploinsufficiency
23Humans
24Lung cancer
25Medical genetics
26Medical research
27Medical sciences
28microRNA
29Molecular and cellular biology
30Molecular Sequence Data
31Mutation
32Neoplasms - diagnosis
33Neoplasms - genetics
34Oncology
35Paediatric oncology
36Pleiotropy
37Ribonuclease III - genetics
38Risk factors
39Sequence Analysis, DNA
40Surveillance
41Syndrome
42Thyroid cancer
43Tumors
44tumour predisposition
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eissn1468-6244
codenJMDGAE
abstractBackgroundConstitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB).AimTo investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer.Methods and resultsThe authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Constitutional DICER1 mutations were identified in 19 families including 11/14 with PPB, 2/3 with cystic nephroma, 4/7 with ovarian Sertoli–Leydig-type tumours, 1/243 with Wilms tumour (this patient also had a Sertoli–Leydig tumour), 1/1 with intraocular medulloepithelioma (this patient also had PPB), 1/86 with medulloblastoma/infratentorial primitive neuroectodermal tumour, and 1/172 with germ cell tumour. The inheritance was investigated in 17 families. DICER1 mutations were identified in 25 relatives: 17 were unaffected, one mother had ovarian Sertoli–Leydig tumour, one half-sibling had cystic nephroma, and six relatives had non-toxic thyroid cysts/goitre. Analysis of eight tumours from DICER1 mutation-positive patients showed universal retention of the wild-type allele. DICER1 truncating mutations were identified in 4/781 cancer cell lines; all were in microsatellite unstable lines and therefore unlikely to be driver mutations.ConclusionConstitutional DICER1 haploinsufficiency predisposes to a broad range of tumours, making a substantial contribution to PPB, cystic nephroma and ovarian Sertoli–Leydig tumours, but a smaller contribution to other tumours. Most mutation carriers are unaffected, indicating that tumour risk is modest. The authors define the clinical contexts in which DICER1 mutation testing should be considered, the associated tumour risks, and the implications for at-risk individuals. They have termed this condition ‘DICER1 syndrome’.Accession numbersThe cDNA Genbank accession number for the DICER1 sequence reported in this paper is NM_030621.2.
copLondon
pubBMJ Publishing Group Ltd
pmid21266384
doi10.1136/jmg.2010.083790
oafree_for_read