ea0014p117 | (1) | ECE2007
Luconi Michaela
, Ercolino Tonino
, Lombardi Adriana
, Becherini Lucia
, Piscitelli Elisabetta
, Sole Gaglianò Maria
, Serio Mario
, Mannelli Massimo
Germline mutations in the RET gene cause MEN2, an inherited cancer syndrome associated with medullary thyroid carcinoma (MTC). We performed genetic analysis on DNA from whole blood of a 58 yr old female affected by a multifocal MTC. Exons 10, 11, 13, 15 and 16 of RET gene were amplified by PCR using specific primers and characterised by direct automatic sequencing. Here, we report a new RET point mutation: a heterozigous missense mutation Y606C, a G to A nucleotide substitutio...