AustralieFrV1, PascalFrancis, Corpus, bibRecord, 005E30

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Identifieur interne : 005E30 ( PascalFrancis/Corpus ); précédent : 005E29; suivant : 005E31

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Auteurs : B. Nord ; A. Platz ; K. Smoczynski ; S. Kytöl ; G. Robertson ; A. Calender ; A. Murat ; D. Weintraub ; J. Burgess ; M. Edwards ; B. Skogseid ; D. Owen ; N. Lassam ; D. Hogg ; C. Larsson ; BIN TEAN TEH

Source :

International journal of cancer [ 0020-7136 ] ; 2000.

RBID : Pascal:00-0424824

Descripteurs français

Pascal (Inist)
- Polyadénomatose endocrinienne I, Association, Mélanome, Peau, Gène suppresseur tumeur, Perte hétérozygotie, Délétion, Mutation somatique, Chromosome C11 anormal, Sporadique, Cytogénétique, Tumorigénicité, Homme, Gène MEN1.

English descriptors

KwdEn :
- Abnormal chromosome C11, Association, Cytogenetics, Deletion, Human, Loss of heterozygosity, Melanoma, Multiple endocrine neoplasia type I, Skin, Somatic mutation, Sporadic, Tumor suppressor gene, Tumorigenicity.

Abstract

Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`15`	`1`		`@1 LARSSON (C.)`
A11	`16`	`1`		`@1 BIN TEAN TEH`
A14	`01`			`@1 Department of Molecular Medicine, Karolinska Hospital @2 Stockholm @3 SWE @Z 1 aut. @Z 4 aut. @Z 15 aut. @Z 16 aut.`
A14	`02`			`@1 Department of Oncology/Pathology, Karolinska Hospital @2 Stockholm @3 SWE @Z 2 aut. @Z 3 aut.`
A14	`03`			`@1 Ludwig Institute for Cancer Research, University of California @2 San Diego, California @3 USA @Z 5 aut.`
A14	`04`			`@1 Laboratory of Genetics and Cancer, Hôpital Edouard Herriot @2 Lyon @3 FRA @Z 6 aut.`
A14	`05`			`@1 Service d'Endocrinologie, Centre Hospitalier Universitaire de Nantes @2 Nantes @3 FRA @Z 7 aut.`
A14	`06`			`@1 Laboratoire Weintraub, Chemin Beausoleil @2 Genève @3 CHE @Z 8 aut.`
A14	`07`			`@1 Department of Diabetes and Endocrine Services, Royal Hobart Hospital @2 Tasmania @3 AUS @Z 9 aut.`
A14	`08`			`@1 Newcastle and Northern NSW Genetics Service @2 Waratah @3 AUS @Z 10 aut.`
A14	`09`			`@1 Department of Internal Medicine, University Hospital @2 Uppsala @3 SWE @Z 11 aut.`
A14	`10`			`@1 Department of Pathology, Vancouver General Hospital @2 British Columbia @3 CAN @Z 12 aut.`
A14	`11`			`@1 Medical Sciences Building, University of Toronto @2 Toronto, Ontario @3 CAN @Z 13 aut. @Z 14 aut.`
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A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2000 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 International journal of cancer`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.
C02	`01`	`X`		`@0 002B08A`
C03	`01`	`X`	`FRE`	`@0 Polyadénomatose endocrinienne I @5 01`
C03	`01`	`X`	`ENG`	`@0 Multiple endocrine neoplasia type I @5 01`
C03	`01`	`X`	`SPA`	`@0 Neoplasia endocrina múltiple tipo I @5 01`
C03	`02`	`X`	`FRE`	`@0 Association @5 02`
C03	`02`	`X`	`ENG`	`@0 Association @5 02`
C03	`02`	`X`	`SPA`	`@0 Asociación @5 02`
C03	`03`	`X`	`FRE`	`@0 Mélanome @5 04`
C03	`03`	`X`	`ENG`	`@0 Melanoma @5 04`
C03	`03`	`X`	`SPA`	`@0 Melanoma @5 04`
C03	`04`	`X`	`FRE`	`@0 Peau @5 05`
C03	`04`	`X`	`ENG`	`@0 Skin @5 05`
C03	`04`	`X`	`SPA`	`@0 Piel @5 05`
C03	`05`	`X`	`FRE`	`@0 Gène suppresseur tumeur @5 06`
C03	`05`	`X`	`ENG`	`@0 Tumor suppressor gene @5 06`
C03	`05`	`X`	`SPA`	`@0 Gen supresor tumor @5 06`
C03	`06`	`X`	`FRE`	`@0 Perte hétérozygotie @5 07`
C03	`06`	`X`	`ENG`	`@0 Loss of heterozygosity @5 07`
C03	`06`	`X`	`SPA`	`@0 Pérdida heterozigosis @5 07`
C03	`07`	`X`	`FRE`	`@0 Délétion @5 08`
C03	`07`	`X`	`ENG`	`@0 Deletion @5 08`
C03	`07`	`X`	`SPA`	`@0 Deleción @5 08`
C03	`08`	`X`	`FRE`	`@0 Mutation somatique @5 09`
C03	`08`	`X`	`ENG`	`@0 Somatic mutation @5 09`
C03	`08`	`X`	`SPA`	`@0 Mutación somática @5 09`
C03	`09`	`X`	`FRE`	`@0 Chromosome C11 anormal @5 10`
C03	`09`	`X`	`ENG`	`@0 Abnormal chromosome C11 @5 10`
C03	`09`	`X`	`SPA`	`@0 Cromosoma C11 anormal @5 10`
C03	`10`	`X`	`FRE`	`@0 Sporadique @5 11`
C03	`10`	`X`	`ENG`	`@0 Sporadic @5 11`
C03	`10`	`X`	`SPA`	`@0 Esporádico @5 11`
C03	`11`	`X`	`FRE`	`@0 Cytogénétique @5 12`
C03	`11`	`X`	`ENG`	`@0 Cytogenetics @5 12`
C03	`11`	`X`	`SPA`	`@0 Citogenética @5 12`
C03	`12`	`X`	`FRE`	`@0 Tumorigénicité @5 13`
C03	`12`	`X`	`ENG`	`@0 Tumorigenicity @5 13`
C03	`12`	`X`	`SPA`	`@0 Tumorigenicidad @5 13`
C03	`13`	`X`	`FRE`	`@0 Homme @5 17`
C03	`13`	`X`	`ENG`	`@0 Human @5 17`
C03	`13`	`X`	`SPA`	`@0 Hombre @5 17`
C03	`14`	`X`	`FRE`	`@0 Gène MEN1 @4 INC @5 86`
C07	`01`	`X`	`FRE`	`@0 Chromosome anormal`
C07	`01`	`X`	`ENG`	`@0 Abnormal chromosome`
C07	`01`	`X`	`SPA`	`@0 Cromosoma anormal`
C07	`02`	`X`	`FRE`	`@0 Aberration chromosomique`
C07	`02`	`X`	`ENG`	`@0 Chromosomal aberration`
C07	`02`	`X`	`SPA`	`@0 Aberración cromosómica`
C07	`03`	`X`	`FRE`	`@0 Tumeur bénigne @5 37`
C07	`03`	`X`	`ENG`	`@0 Benign neoplasm @5 37`
C07	`03`	`X`	`SPA`	`@0 Tumor benigno @5 37`
C07	`04`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
C07	`04`	`X`	`ENG`	`@0 Genetic disease @5 38`
C07	`04`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 38`
C07	`05`	`X`	`FRE`	`@0 Endocrinopathie @5 39`
C07	`05`	`X`	`ENG`	`@0 Endocrinopathy @5 39`
C07	`05`	`X`	`SPA`	`@0 Endocrinopatía @5 39`
C07	`06`	`X`	`FRE`	`@0 Tumeur maligne @5 45`
C07	`06`	`X`	`ENG`	`@0 Malignant tumor @5 45`
C07	`06`	`X`	`SPA`	`@0 Tumor maligno @5 45`
C07	`07`	`X`	`FRE`	`@0 Peau pathologie @5 46`
C07	`07`	`X`	`ENG`	`@0 Skin disease @5 46`
C07	`07`	`X`	`SPA`	`@0 Piel patología @5 46`
C07	`08`	`X`	`FRE`	`@0 Génétique @5 53`
C07	`08`	`X`	`ENG`	`@0 Genetics @5 53`
C07	`08`	`X`	`SPA`	`@0 Genética @5 53`
N21				`@1 283`

Format Inist (serveur)

NO :	PASCAL 00-0424824 INIST
ET :	Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma
AU :	NORD (B.); PLATZ (A.); SMOCZYNSKI (K.); KYTÖLÄ (S.); ROBERTSON (G.); CALENDER (A.); MURAT (A.); WEINTRAUB (D.); BURGESS (J.); EDWARDS (M.); SKOGSEID (B.); OWEN (D.); LASSAM (N.); HOGG (D.); LARSSON (C.); BIN TEAN TEH
AF :	Department of Molecular Medicine, Karolinska Hospital/Stockholm/Suède (1 aut., 4 aut., 15 aut., 16 aut.); Department of Oncology/Pathology, Karolinska Hospital/Stockholm/Suède (2 aut., 3 aut.); Ludwig Institute for Cancer Research, University of California/San Diego, California/Etats-Unis (5 aut.); Laboratory of Genetics and Cancer, Hôpital Edouard Herriot/Lyon/France (6 aut.); Service d'Endocrinologie, Centre Hospitalier Universitaire de Nantes/Nantes/France (7 aut.); Laboratoire Weintraub, Chemin Beausoleil/Genève/Suisse (8 aut.); Department of Diabetes and Endocrine Services, Royal Hobart Hospital/Tasmania/Australie (9 aut.); Newcastle and Northern NSW Genetics Service/Waratah/Australie (10 aut.); Department of Internal Medicine, University Hospital/Uppsala/Suède (11 aut.); Department of Pathology, Vancouver General Hospital/British Columbia/Canada (12 aut.); Medical Sciences Building, University of Toronto/Toronto, Ontario/Canada (13 aut., 14 aut.)
DT :	Publication en série; Niveau analytique
SO :	International journal of cancer; ISSN 0020-7136; Coden IJCNAW; Etats-Unis; Da. 2000; Vol. 87; No. 4; Pp. 463-467; Bibl. 20 ref.
LA :	Anglais
EA :	Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.
CC :	002B08A
FD :	Polyadénomatose endocrinienne I; Association; Mélanome; Peau; Gène suppresseur tumeur; Perte hétérozygotie; Délétion; Mutation somatique; Chromosome C11 anormal; Sporadique; Cytogénétique; Tumorigénicité; Homme; Gène MEN1
FG :	Chromosome anormal; Aberration chromosomique; Tumeur bénigne; Maladie héréditaire; Endocrinopathie; Tumeur maligne; Peau pathologie; Génétique
ED :	Multiple endocrine neoplasia type I; Association; Melanoma; Skin; Tumor suppressor gene; Loss of heterozygosity; Deletion; Somatic mutation; Abnormal chromosome C11; Sporadic; Cytogenetics; Tumorigenicity; Human
EG :	Abnormal chromosome; Chromosomal aberration; Benign neoplasm; Genetic disease; Endocrinopathy; Malignant tumor; Skin disease; Genetics
SD :	Neoplasia endocrina múltiple tipo I; Asociación; Melanoma; Piel; Gen supresor tumor; Pérdida heterozigosis; Deleción; Mutación somática; Cromosoma C11 anormal; Esporádico; Citogenética; Tumorigenicidad; Hombre
LO :	INIST-13027.354000090988570010
ID :	00-0424824

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Pascal:00-0424824

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma</title>
<author><name sortKey="Nord, B" sort="Nord, B" uniqKey="Nord B" first="B." last="Nord">B. Nord</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Molecular Medicine, Karolinska Hospital</s1>
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<author><name sortKey="Platz, A" sort="Platz, A" uniqKey="Platz A" first="A." last="Platz">A. Platz</name>
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<sZ>15 aut.</sZ>
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<s2>Stockholm</s2>
<s3>SWE</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>15 aut.</sZ>
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<author><name sortKey="Bin Tean Teh" sort="Bin Tean Teh" uniqKey="Bin Tean Teh" last="Bin Tean Teh">BIN TEAN TEH</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Molecular Medicine, Karolinska Hospital</s1>
<s2>Stockholm</s2>
<s3>SWE</s3>
<sZ>1 aut.</sZ>
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<sZ>15 aut.</sZ>
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<series><title level="j" type="main">International journal of cancer</title>
<title level="j" type="abbreviated">Int. j. cancer</title>
<idno type="ISSN">0020-7136</idno>
<imprint><date when="2000">2000</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal chromosome C11</term>
<term>Association</term>
<term>Cytogenetics</term>
<term>Deletion</term>
<term>Human</term>
<term>Loss of heterozygosity</term>
<term>Melanoma</term>
<term>Multiple endocrine neoplasia type I</term>
<term>Skin</term>
<term>Somatic mutation</term>
<term>Sporadic</term>
<term>Tumor suppressor gene</term>
<term>Tumorigenicity</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Polyadénomatose endocrinienne I</term>
<term>Association</term>
<term>Mélanome</term>
<term>Peau</term>
<term>Gène suppresseur tumeur</term>
<term>Perte hétérozygotie</term>
<term>Délétion</term>
<term>Mutation somatique</term>
<term>Chromosome C11 anormal</term>
<term>Sporadique</term>
<term>Cytogénétique</term>
<term>Tumorigénicité</term>
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<front><div type="abstract" xml:lang="en">Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma</s1>
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<fA14 i1="04"><s1>Laboratory of Genetics and Cancer, Hôpital Edouard Herriot</s1>
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<fA14 i1="06"><s1>Laboratoire Weintraub, Chemin Beausoleil</s1>
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<fA14 i1="07"><s1>Department of Diabetes and Endocrine Services, Royal Hobart Hospital</s1>
<s2>Tasmania</s2>
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<fA14 i1="08"><s1>Newcastle and Northern NSW Genetics Service</s1>
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<fA14 i1="09"><s1>Department of Internal Medicine, University Hospital</s1>
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<fA14 i1="10"><s1>Department of Pathology, Vancouver General Hospital</s1>
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<sZ>12 aut.</sZ>
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<sZ>13 aut.</sZ>
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<fA64 i1="01" i2="1"><s0>International journal of cancer</s0>
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<fC01 i1="01" l="ENG"><s0>Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.</s0>
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<fC02 i1="01" i2="X"><s0>002B08A</s0>
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<fC07 i1="06" i2="X" l="ENG"><s0>Malignant tumor</s0>
<s5>45</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Tumor maligno</s0>
<s5>45</s5>
</fC07>
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<s5>46</s5>
</fC07>
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<s5>46</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Piel patología</s0>
<s5>46</s5>
</fC07>
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<s5>53</s5>
</fC07>
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<s5>53</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Genética</s0>
<s5>53</s5>
</fC07>
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<server><NO>PASCAL 00-0424824 INIST</NO>
<ET>Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma</ET>
<AU>NORD (B.); PLATZ (A.); SMOCZYNSKI (K.); KYTÖLÄ (S.); ROBERTSON (G.); CALENDER (A.); MURAT (A.); WEINTRAUB (D.); BURGESS (J.); EDWARDS (M.); SKOGSEID (B.); OWEN (D.); LASSAM (N.); HOGG (D.); LARSSON (C.); BIN TEAN TEH</AU>
<AF>Department of Molecular Medicine, Karolinska Hospital/Stockholm/Suède (1 aut., 4 aut., 15 aut., 16 aut.); Department of Oncology/Pathology, Karolinska Hospital/Stockholm/Suède (2 aut., 3 aut.); Ludwig Institute for Cancer Research, University of California/San Diego, California/Etats-Unis (5 aut.); Laboratory of Genetics and Cancer, Hôpital Edouard Herriot/Lyon/France (6 aut.); Service d'Endocrinologie, Centre Hospitalier Universitaire de Nantes/Nantes/France (7 aut.); Laboratoire Weintraub, Chemin Beausoleil/Genève/Suisse (8 aut.); Department of Diabetes and Endocrine Services, Royal Hobart Hospital/Tasmania/Australie (9 aut.); Newcastle and Northern NSW Genetics Service/Waratah/Australie (10 aut.); Department of Internal Medicine, University Hospital/Uppsala/Suède (11 aut.); Department of Pathology, Vancouver General Hospital/British Columbia/Canada (12 aut.); Medical Sciences Building, University of Toronto/Toronto, Ontario/Canada (13 aut., 14 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>International journal of cancer; ISSN 0020-7136; Coden IJCNAW; Etats-Unis; Da. 2000; Vol. 87; No. 4; Pp. 463-467; Bibl. 20 ref.</SO>
<LA>Anglais</LA>
<EA>Multiple endocrine neoplasia type I (MEN I) is a familial cancer syndrome associated primarily with endocrine tumors of the parathyroids, enteropancreas and anterior pituitary. However, tumors of mesenchymal origin such as angiofibroma and collagenoma of the skin have also been associated with the syndrome. This highlights the possibility of an association between MEN I and some other types of tumors. Here we report 7 cases of primary malignant melanoma occurring in 7 MEN I families, all patients exhibiting classic features of MEN I. Based on these findings and the previous implication of multiple melanoma tumor suppressors) in I 1q, including the MENI region, we have investigated the involvement of the MENI gene in melanoma tumorigenesis. Mutation analysis was performed on a panel of 39 sporadic metastatic melanomas, 13 melanoma cell lines and 20 melanoma families without CDKN2A or CDK4 germ-line mutations. In addition, 19 sporadic metastatic tumors were screened for loss of heterozygosity (LOH) in 11q13. LOH was detected in 6 tumors (32%), and in 4 of the tumors the pattern of LOH suggested that the deletion included the MENI gene locus. A novel somatic nonsense mutation in exon 7 (Q349X) was identified in I sporadic tumor which also showed loss of the wild-type allele. We conclude that the MENI gene plays a role in the tumorigenesis of a small subgroup of melanoma.</EA>
<CC>002B08A</CC>
<FD>Polyadénomatose endocrinienne I; Association; Mélanome; Peau; Gène suppresseur tumeur; Perte hétérozygotie; Délétion; Mutation somatique; Chromosome C11 anormal; Sporadique; Cytogénétique; Tumorigénicité; Homme; Gène MEN1</FD>
<FG>Chromosome anormal; Aberration chromosomique; Tumeur bénigne; Maladie héréditaire; Endocrinopathie; Tumeur maligne; Peau pathologie; Génétique</FG>
<ED>Multiple endocrine neoplasia type I; Association; Melanoma; Skin; Tumor suppressor gene; Loss of heterozygosity; Deletion; Somatic mutation; Abnormal chromosome C11; Sporadic; Cytogenetics; Tumorigenicity; Human</ED>
<EG>Abnormal chromosome; Chromosomal aberration; Benign neoplasm; Genetic disease; Endocrinopathy; Malignant tumor; Skin disease; Genetics</EG>
<SD>Neoplasia endocrina múltiple tipo I; Asociación; Melanoma; Piel; Gen supresor tumor; Pérdida heterozigosis; Deleción; Mutación somática; Cromosoma C11 anormal; Esporádico; Citogenética; Tumorigenicidad; Hombre</SD>
<LO>INIST-13027.354000090988570010</LO>
<ID>00-0424824</ID>
</server>
</inist>
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Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma

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