Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg

Abstrakt

Single strand conformation polymorphism method for screening of mutations in the RET proto-oncogene were used. In one Czech family with FMTC, we have identified a novel missense point mutation of the RET proto-oncogene in exon 5.

To improve the diagnosis of FMTC, analysis of exon 5 of the RET proto-oncogene should be considered.

Klíčová slova

• RET proto-oncogene
• medullary carcinoma
• familial
• exon 5
• cadherin-like domain
• thyroid gland