DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours

Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations i...
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Autor*in:	de Boer, Carmela M [verfasserIn] Eini, Ronak Gillis, Ad M Stoop, Hans Looijenga, Leendert HJ White, Stefan J

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2012

Schlagwörter:	miRNA DICER1 Cancer Testicular germ cell tumours Mutation detection

Anmerkung:	© de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: BMC Research Notes - London, 2008, 5(2012), 1 vom: 15. Okt.
Übergeordnetes Werk:	volume:5 ; year:2012 ; number:1 ; day:15 ; month:10

Links:	Volltext

DOI / URN:	10.1186/1756-0500-5-569

Katalog-ID:	SPR030284570

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520			\|a Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs.
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allfields	10.1186/1756-0500-5-569 doi (DE-627)SPR030284570 (SPR)1756-0500-5-569-e DE-627 ger DE-627 rakwb eng de Boer, Carmela M verfasserin aut DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213 Eini, Ronak aut Gillis, Ad M aut Stoop, Hans aut Looijenga, Leendert HJ aut White, Stefan J aut Enthalten in BMC Research Notes London, 2008 5(2012), 1 vom: 15. Okt. (DE-627)559431805 (DE-600)2413336-X 1756-0500 nnns volume:5 year:2012 number:1 day:15 month:10 https://dx.doi.org/10.1186/1756-0500-5-569 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 15 10
spelling	10.1186/1756-0500-5-569 doi (DE-627)SPR030284570 (SPR)1756-0500-5-569-e DE-627 ger DE-627 rakwb eng de Boer, Carmela M verfasserin aut DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213 Eini, Ronak aut Gillis, Ad M aut Stoop, Hans aut Looijenga, Leendert HJ aut White, Stefan J aut Enthalten in BMC Research Notes London, 2008 5(2012), 1 vom: 15. Okt. (DE-627)559431805 (DE-600)2413336-X 1756-0500 nnns volume:5 year:2012 number:1 day:15 month:10 https://dx.doi.org/10.1186/1756-0500-5-569 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 15 10
allfields_unstemmed	10.1186/1756-0500-5-569 doi (DE-627)SPR030284570 (SPR)1756-0500-5-569-e DE-627 ger DE-627 rakwb eng de Boer, Carmela M verfasserin aut DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213 Eini, Ronak aut Gillis, Ad M aut Stoop, Hans aut Looijenga, Leendert HJ aut White, Stefan J aut Enthalten in BMC Research Notes London, 2008 5(2012), 1 vom: 15. Okt. (DE-627)559431805 (DE-600)2413336-X 1756-0500 nnns volume:5 year:2012 number:1 day:15 month:10 https://dx.doi.org/10.1186/1756-0500-5-569 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 15 10
allfieldsGer	10.1186/1756-0500-5-569 doi (DE-627)SPR030284570 (SPR)1756-0500-5-569-e DE-627 ger DE-627 rakwb eng de Boer, Carmela M verfasserin aut DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213 Eini, Ronak aut Gillis, Ad M aut Stoop, Hans aut Looijenga, Leendert HJ aut White, Stefan J aut Enthalten in BMC Research Notes London, 2008 5(2012), 1 vom: 15. Okt. (DE-627)559431805 (DE-600)2413336-X 1756-0500 nnns volume:5 year:2012 number:1 day:15 month:10 https://dx.doi.org/10.1186/1756-0500-5-569 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 15 10
allfieldsSound	10.1186/1756-0500-5-569 doi (DE-627)SPR030284570 (SPR)1756-0500-5-569-e DE-627 ger DE-627 rakwb eng de Boer, Carmela M verfasserin aut DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213 Eini, Ronak aut Gillis, Ad M aut Stoop, Hans aut Looijenga, Leendert HJ aut White, Stefan J aut Enthalten in BMC Research Notes London, 2008 5(2012), 1 vom: 15. Okt. (DE-627)559431805 (DE-600)2413336-X 1756-0500 nnns volume:5 year:2012 number:1 day:15 month:10 https://dx.doi.org/10.1186/1756-0500-5-569 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2012 1 15 10
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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. 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author	de Boer, Carmela M
spellingShingle	de Boer, Carmela M misc miRNA misc DICER1 misc Cancer misc Testicular germ cell tumours misc Mutation detection DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
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topic_title	DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours miRNA (dpeaa)DE-He213 DICER1 (dpeaa)DE-He213 Cancer (dpeaa)DE-He213 Testicular germ cell tumours (dpeaa)DE-He213 Mutation detection (dpeaa)DE-He213
topic	misc miRNA misc DICER1 misc Cancer misc Testicular germ cell tumours misc Mutation detection
topic_unstemmed	misc miRNA misc DICER1 misc Cancer misc Testicular germ cell tumours misc Mutation detection
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title	DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
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title_full	DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
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author_browse	de Boer, Carmela M Eini, Ronak Gillis, Ad M Stoop, Hans Looijenga, Leendert HJ White, Stefan J
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title_sort	dicer1 rnase iiib domain mutations are infrequent in testicular germ cell tumours
title_auth	DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
abstract	Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs. © de Boer et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
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title_short	DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours
url	https://dx.doi.org/10.1186/1756-0500-5-569
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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites. Findings A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function. Conclusion Overall our findings suggest a mutation frequency in TGCTs of ~1%. 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DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours

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