Premium
A Cys634Gly substitution of the RET proto‐oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis
Author(s) -
Seri Marco,
Celli Iacopo,
Betsos Nicola,
Claudiani Franco,
Camera Gianni,
Romeo Giovanni
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02425.x
Subject(s) - multiple endocrine neoplasia type 2 , ret proto oncogene , multiple endocrine neoplasia , thyroid carcinoma , biology , genetics , proto oncogene proteins c ret , cancer research , mutation , allele , point mutation , thyroid , germline mutation , gene , receptor , neurotrophic factors , glial cell line derived neurotrophic factor
Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele.