A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10

Abstract

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and hyperparathyroidism. Almost all gene carriers can be detected by screening tests before the age of 40, but the nature and location of the predisposing gene are unknown. Simpson et al. recently reported preliminary evidence for linkage between the DNA probe p9-12A on chromosome 10 and MEN2A. We now report linkage between the MEN2A locus and the interstitial retinol-binding protein gene, which is located on chromosome 10p11.2-q11.2.

Preclinical detection of men 2A gene carrier using linked DNA markers

“…Both RBP3 and FNRB are linked to the MEN-2A locus, and the MEN2A locus lies between these markers (Meyers et aI., 1989). The linkage data analyzed from Japanese MEN 2A families is consistent with that ef European Caucasian kindreds (Mathew et al, 1987;Simpson et al, 1987;Yamamoto et al, 1989;Meyers et al, 1989). The recombination fraction (Om=Of) at maximum lod scores between MEN2A and these markers is calculated to be 0.045. for RI~P3 (Zm,x=13.t), and 0.063 for FNRB (Zm~x=13.2) (Wu et al, 1990), respectively.…”

Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

“…[2][3][4] In 1987, Mathew et al 5 linked the gene to the pericentromeric region of chromosome 10, and in 1993, it was demonstrated that mutations in the RET protooncogene were associated with the inherited form of MTC, 6,7 occurring first in MEN 2A and FMTC.…”

Biology of tumors of the peripheral nervous system

“…In cases in which it was examined, these deletions were not noted in the constitutional (normal) DNA of the patients, indicating that the deletion does not reflect the site of the inherited mutation. LOH has been noted on other chromosomes also, including 3p, l lp, 17p, and chromosome 22q, but LOH for lp has been the most consistent finding to date (Khosla et al,1991;Mathew et al, 1987b;Moley et al, 1992;Takai et al, 1987;Tsutsumi et al, 1989;Yang et al, 1990). This suggests that an important suppressor gene resides on this chromosomal arm, and its loss or inactivation plays a role in the development or progression of pheochromocytomas, at least in a substantial subset of patients.…”

“…Several studies using polymorphic -probes for the short arm of chromosome 1 have noted LOH involving 1 p in about half the cases studied (Khosla et al, 1991;Mathew et al, 1987b;Moley et al, 1992;Takai et al, 1987;Tsutsumi et al, 1989;Yang et al, 1990). In cases in which it was examined, these deletions were not noted in the constitutional (normal) DNA of the patients, indicating that the deletion does not reflect the site of the inherited mutation.…”