TY - JOUR
T1 - Germ Line Mutations of the ret Proto‐oncogene in Japanese Patients with Multiple Endocrine Neoplasia Type 2A and Type 2B
AU - Maruyama, Shoichi
AU - Iwashita, Toshihide
AU - Imai, Tsuneo
AU - Funahashi, Hiroomi
AU - Ceccherini, Isabella
AU - Luo, Yin
AU - Romeo, Giovanni
AU - Matsuo, Seiichi
AU - Matsuyama, Mutsushi
AU - Takahashi, Masahide
PY - 1994/9
Y1 - 1994/9
N2 - We investigated mutations of the ret proto‐oncogene in Japanese patients with multiple endocrine neoplasia (MEN) type 2A and type 2B. DNAs from pheochromocytomas and/or medullary thyroid carcinomas (MTCs) of five MEN 2A and three MEN 2B patients were amplified by a polymerase chain reaction (PCR) and analyzed. Tumors of four MEN 2A patients had missense mutations in Cys 634 in the extracellular domain of the ret proto‐oncogene. The same mutations were detected in normal tissues of the patients, indicating that the mutations had arisen in the germ line. Using a reverse transcriptase(RT)‐PCR, both normal and mutant transcripts of the ret proto‐oncogene were detected in a tumor of one patient with MEN 2A mutation. In addition, three MEN 2B patients examined had the same point mutation (ATGÂG) at codon 918 in the tyrosine kinase domain of the ret proto‐oncogene. Since all mutations identified in this study generated new restriction enzyme sites or eliminated a restriction site, the mutant alleles of affected family members could be readily detected without sequencing.
AB - We investigated mutations of the ret proto‐oncogene in Japanese patients with multiple endocrine neoplasia (MEN) type 2A and type 2B. DNAs from pheochromocytomas and/or medullary thyroid carcinomas (MTCs) of five MEN 2A and three MEN 2B patients were amplified by a polymerase chain reaction (PCR) and analyzed. Tumors of four MEN 2A patients had missense mutations in Cys 634 in the extracellular domain of the ret proto‐oncogene. The same mutations were detected in normal tissues of the patients, indicating that the mutations had arisen in the germ line. Using a reverse transcriptase(RT)‐PCR, both normal and mutant transcripts of the ret proto‐oncogene were detected in a tumor of one patient with MEN 2A mutation. In addition, three MEN 2B patients examined had the same point mutation (ATGÂG) at codon 918 in the tyrosine kinase domain of the ret proto‐oncogene. Since all mutations identified in this study generated new restriction enzyme sites or eliminated a restriction site, the mutant alleles of affected family members could be readily detected without sequencing.
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U2 - 10.1111/j.1349-7006.1994.tb02962.x
DO - 10.1111/j.1349-7006.1994.tb02962.x
M3 - Article
C2 - 7961113
AN - SCOPUS:0028106266
SN - 0910-5050
VL - 85
SP - 879
EP - 882
JO - Japanese Journal of Cancer Research
JF - Japanese Journal of Cancer Research
IS - 9
ER -