Linkage Analyses of Multiple Endocrine Neoplasia, Type 2A (MEN-2A) with 20 DNA Polymorphisms: 5&amp;percnt; of the Genome Excluded

Kidd, K.K.; Kidd, Justin; Castiglione, Carmela M.; Genel, Myron; Darby, John; Cavalli-Sforza, Luigi Luca; Gusella, JamesF .

doi:10.1159/000153634

Cited by 11 publications

(1 citation statement)

References 10 publications

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“…Multiple endocrine neoplasia type 2 (MEN 2) and FMTC were initially mapped using linkage analysis (9,10). Definitive mapping of MEN 2 and FMTC to chromosome 10 occurred in 1987 (11,12).…”

Section: Introductionmentioning

confidence: 99%

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Marsh

Learoyd²,

Robinson³

1995

Thyroid

138

101

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Medullary thyroid carcinoma (MTC) is a malignancy of the thyroid C-cells that comprises 5-10% of all thyroid cancers. MTC occurs in both sporadic and familial forms, the latter making up 25% of all MTCs and being comprised of three distinct syndromes--multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC). To date, screening for MTC has been performed using the pentagastrin stimulation test, which is a provocative test for calcitonin release. Germline mutations in the RET protooncogene have been identified in families manifesting these syndromes and genetic screening of individuals at risk of one of these syndromes has become integral to their clinical management. The majority of the mutations associated with MEN 2A and FMTC are tightly clustered in a cysteine-rich region of the RET receptor. A single mutation associated with MEN 2B is in the the tyrosine kinase domain of the RET receptor. Somatic mutations have been identified in the tumor tissue of individuals with sporadic MTC and may prove to be helpful markers in discerning the hereditary or sporadic nature of the MTC. There is general agreement that the primary operation for MTC should include total thyroidectomy and central neck lymph node clearance. The role of microdissection for recurrent disease awaits longitudinal evaluation. External radiotherapy, radionuclide therapy, and chemotherapy may have a role in palliation, but have not been proven to have a curative value. Prognostic factors are discussed.

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“…Multiple endocrine neoplasia type 2 (MEN 2) and FMTC were initially mapped using linkage analysis (9,10). Definitive mapping of MEN 2 and FMTC to chromosome 10 occurred in 1987 (11,12).…”

Section: Introductionmentioning

confidence: 99%

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Marsh

Learoyd²,

Robinson³

1995

Thyroid

138

101

View full text Add to dashboard Cite

show abstract

Searching for Major Genes for Psychiatric Disorders

Kídd

2007

Ciba Foundation Symposium 130 ‐ Molecular Approaches to Human Polygenic Disease

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Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group‐specific loci: Use of restriction fragment length polymorphisms extends exclusion region

Kídd

Kidd

Castiglione

et al. 1986

Genetic Epidemiology

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In an earlier paper, positive but nonsignificant lod scores were found in pair-wise linkage tests between multiple endocrine neoplasia type 2A (MEN-2A) and both the haptoglobin (HP) locus on chromosome 16 and group-specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorphisms for HP and for metallothionein 2 processed pseudogene 1 (MT2P1) near GC have made it possible to carry out a more powerful set of linkage tests with MEN-2A. This paper reports the results of such linkage analyses employing both pair-wise and multipoint tests. Close linkage of HP on chromosome 16 and MEN-2A is excluded. Linkage of MEN-2A on chromosome 4 with GC is excluded on the MT2P1 side of GC in a 7-centimorgan interval around MT2P1.

show abstract

Linkage Analyses of Multiple Endocrine Neoplasia, Type 2A (MEN-2A) with 20 DNA Polymorphisms: 5&percnt; of the Genome Excluded

Cited by 11 publications

References 10 publications

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Searching for Major Genes for Psychiatric Disorders

Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group‐specific loci: Use of restriction fragment length polymorphisms extends exclusion region

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