AustralieFrV1, Main, Exploration, bibRecord, 000428

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Identifieur interne : 000428 ( Main/Exploration ); précédent : 000427; suivant : 000429

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Auteurs : Jes Sloth Mathiesen [Danemark] ; Mouhammed Amir Habra [États-Unis] ; John Howard Duncan Bassett [Royaume-Uni] ; Sirazum Mubin Choudhury [Royaume-Uni] ; Sabapathy Prakash Balasubramanian [Royaume-Uni] ; Trevor A. Howlett [Royaume-Uni] ; Bruce G. Robinson [Australie] ; Anne-Paule Gimenez-Roqueplo [France] ; Frederic Castinetti [France] ; Peter Vestergaard [Danemark] ; Karin Frank-Raue [Allemagne]

Source :

The Journal of clinical endocrinology and metabolism [ 1945-7197 ] ; 2017.

RBID : pubmed:28323957

Descripteurs français

English descriptors

KwdEn :
- Adolescent, Adrenal Gland Neoplasms (etiology), Adrenal Gland Neoplasms (genetics), Adult, Carcinoma, Neuroendocrine (etiology), Carcinoma, Neuroendocrine (genetics), Carcinoma, Neuroendocrine (surgery), Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Male, Multiple Endocrine Neoplasia Type 2b (complications), Multiple Endocrine Neoplasia Type 2b (genetics), Mutation, Penetrance, Pheochromocytoma (etiology), Pheochromocytoma (genetics), Proto-Oncogene Proteins c-ret (genetics), Retrospective Studies, Risk Assessment, Survival Rate, Thyroid Neoplasms (etiology), Thyroid Neoplasms (genetics), Thyroid Neoplasms (surgery), Thyroidectomy, Young Adult.
MESH :
- chemical , genetics : Proto-Oncogene Proteins c-ret.
- complications : Multiple Endocrine Neoplasia Type 2b.
- etiology : Adrenal Gland Neoplasms, Carcinoma, Neuroendocrine, Pheochromocytoma, Thyroid Neoplasms.
- genetics : Adrenal Gland Neoplasms, Carcinoma, Neuroendocrine, Multiple Endocrine Neoplasia Type 2b, Pheochromocytoma, Thyroid Neoplasms.
- surgery : Carcinoma, Neuroendocrine, Thyroid Neoplasms.
- Adolescent, Adult, Child, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Male, Mutation, Penetrance, Retrospective Studies, Risk Assessment, Survival Rate, Thyroidectomy, Young Adult.

Abstract

The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.

DOI: 10.1210/jc.2016-3640
PubMed: 28323957

Affiliations:

Le document en format XML

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<term>Adrenal Gland Neoplasms (etiology)</term>
<term>Adrenal Gland Neoplasms (genetics)</term>
<term>Adult</term>
<term>Carcinoma, Neuroendocrine (etiology)</term>
<term>Carcinoma, Neuroendocrine (genetics)</term>
<term>Carcinoma, Neuroendocrine (surgery)</term>
<term>Child</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>Male</term>
<term>Multiple Endocrine Neoplasia Type 2b (complications)</term>
<term>Multiple Endocrine Neoplasia Type 2b (genetics)</term>
<term>Mutation</term>
<term>Penetrance</term>
<term>Pheochromocytoma (etiology)</term>
<term>Pheochromocytoma (genetics)</term>
<term>Proto-Oncogene Proteins c-ret (genetics)</term>
<term>Retrospective Studies</term>
<term>Risk Assessment</term>
<term>Survival Rate</term>
<term>Thyroid Neoplasms (etiology)</term>
<term>Thyroid Neoplasms (genetics)</term>
<term>Thyroid Neoplasms (surgery)</term>
<term>Thyroidectomy</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Carcinome neuroendocrine ()</term>
<term>Carcinome neuroendocrine (génétique)</term>
<term>Carcinome neuroendocrine (étiologie)</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Mutation germinale</term>
<term>Mâle</term>
<term>Néoplasie endocrinienne multiple de type 2b ()</term>
<term>Néoplasie endocrinienne multiple de type 2b (génétique)</term>
<term>Phéochromocytome (génétique)</term>
<term>Phéochromocytome (étiologie)</term>
<term>Protéines proto-oncogènes c-ret (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Pénétrance</term>
<term>Taux de survie</term>
<term>Thyroïdectomie</term>
<term>Tumeurs de la surrénale (génétique)</term>
<term>Tumeurs de la surrénale (étiologie)</term>
<term>Tumeurs de la thyroïde ()</term>
<term>Tumeurs de la thyroïde (génétique)</term>
<term>Tumeurs de la thyroïde (étiologie)</term>
<term>Études rétrospectives</term>
<term>Évaluation des risques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proto-Oncogene Proteins c-ret</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Multiple Endocrine Neoplasia Type 2b</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Adrenal Gland Neoplasms</term>
<term>Carcinoma, Neuroendocrine</term>
<term>Pheochromocytoma</term>
<term>Thyroid Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Adrenal Gland Neoplasms</term>
<term>Carcinoma, Neuroendocrine</term>
<term>Multiple Endocrine Neoplasia Type 2b</term>
<term>Pheochromocytoma</term>
<term>Thyroid Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Carcinome neuroendocrine</term>
<term>Néoplasie endocrinienne multiple de type 2b</term>
<term>Phéochromocytome</term>
<term>Protéines proto-oncogènes c-ret</term>
<term>Tumeurs de la surrénale</term>
<term>Tumeurs de la thyroïde</term>
</keywords>
<keywords scheme="MESH" qualifier="surgery" xml:lang="en"><term>Carcinoma, Neuroendocrine</term>
<term>Thyroid Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Carcinome neuroendocrine</term>
<term>Phéochromocytome</term>
<term>Tumeurs de la surrénale</term>
<term>Tumeurs de la thyroïde</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Germ-Line Mutation</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Penetrance</term>
<term>Retrospective Studies</term>
<term>Risk Assessment</term>
<term>Survival Rate</term>
<term>Thyroidectomy</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Carcinome neuroendocrine</term>
<term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Mutation germinale</term>
<term>Mâle</term>
<term>Néoplasie endocrinienne multiple de type 2b</term>
<term>Prédisposition génétique à une maladie</term>
<term>Pénétrance</term>
<term>Taux de survie</term>
<term>Thyroïdectomie</term>
<term>Tumeurs de la thyroïde</term>
<term>Études rétrospectives</term>
<term>Évaluation des risques</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Danemark</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Bade-Wurtemberg</li>
<li>District de Karlsruhe</li>
<li>Nouvelle-Galles du Sud</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Texas</li>
</region>
<settlement><li>Heidelberg</li>
<li>Marseille</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Danemark"><noRegion><name sortKey="Mathiesen, Jes Sloth" sort="Mathiesen, Jes Sloth" uniqKey="Mathiesen J" first="Jes Sloth" last="Mathiesen">Jes Sloth Mathiesen</name>
</noRegion>
<name sortKey="Vestergaard, Peter" sort="Vestergaard, Peter" uniqKey="Vestergaard P" first="Peter" last="Vestergaard">Peter Vestergaard</name>
</country>
<country name="États-Unis"><region name="Texas"><name sortKey="Habra, Mouhammed Amir" sort="Habra, Mouhammed Amir" uniqKey="Habra M" first="Mouhammed Amir" last="Habra">Mouhammed Amir Habra</name>
</region>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Bassett, John Howard Duncan" sort="Bassett, John Howard Duncan" uniqKey="Bassett J" first="John Howard Duncan" last="Bassett">John Howard Duncan Bassett</name>
</noRegion>
<name sortKey="Balasubramanian, Sabapathy Prakash" sort="Balasubramanian, Sabapathy Prakash" uniqKey="Balasubramanian S" first="Sabapathy Prakash" last="Balasubramanian">Sabapathy Prakash Balasubramanian</name>
<name sortKey="Choudhury, Sirazum Mubin" sort="Choudhury, Sirazum Mubin" uniqKey="Choudhury S" first="Sirazum Mubin" last="Choudhury">Sirazum Mubin Choudhury</name>
<name sortKey="Howlett, Trevor A" sort="Howlett, Trevor A" uniqKey="Howlett T" first="Trevor A" last="Howlett">Trevor A. Howlett</name>
</country>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Robinson, Bruce G" sort="Robinson, Bruce G" uniqKey="Robinson B" first="Bruce G" last="Robinson">Bruce G. Robinson</name>
</region>
</country>
<country name="France"><noRegion><name sortKey="Gimenez Roqueplo, Anne Paule" sort="Gimenez Roqueplo, Anne Paule" uniqKey="Gimenez Roqueplo A" first="Anne-Paule" last="Gimenez-Roqueplo">Anne-Paule Gimenez-Roqueplo</name>
</noRegion>
<name sortKey="Castinetti, Frederic" sort="Castinetti, Frederic" uniqKey="Castinetti F" first="Frederic" last="Castinetti">Frederic Castinetti</name>
</country>
<country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Frank Raue, Karin" sort="Frank Raue, Karin" uniqKey="Frank Raue K" first="Karin" last="Frank-Raue">Karin Frank-Raue</name>
</region>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

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