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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 93 - 98 (6page)
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초록· 키워드
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Purpose: Germline mutation of the RET oncogene results in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid cancer (FMTC). We reviewed the literature to determine the mutation patterns of the RET oncogene in Koreans with MEN-2A, 2B and FMTC.
Methods: We retrieved the relevant literature using the PubMed (http://www.pubmed.org/) and KoreaMed (http:// www.koreamed.org/) databases concerning the RET germline mutations in Korea from 1998 to 2010. We evaluated the pedigree of the patients to exclude the same, repeated families. We collected all the data on the types of mutations and the clinical syndromes.
Results: There were 21 studies with a total of 25 families. In the patients with MEN-2A and FMTC, there were 14 mutations (56%) in codon 634, 6 mutations (24%) in codon 618, 2 mutations (8%) in codon 631 and one mutation (4%) in codon 768. In the patients with MEN-2B, there were 2 mutations (8%) in codon 918. D631Y is an extremely rare mutation, but two families with such a mutation existed in Korea. The frequency of codon 634 mutations in the patients with MEN-2A was relatively lower than that of the previously reports from western countries and the frequency of codon 618 mutations was relatively higher than that in the western countries.
Conclusion: This study shows there are hot spots and genotype-phenotype correlations for the RET oncogene mutations in Koreans. (Korean J Endocrine Surg 2010;10:93-98)
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등록된 정보가 없습니다.
참고문헌 (26)
참고문헌 신청
Bae SJ / 2006 / A rare extracellular D631Y germl ine mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A / Thyroid 16 : 609 ~ 614
Brandi ML / 2001 / Guidelines for diagnosis and therapy of MEN type 1 and type 2 / J Clin Endocrinol Metab 86 : 5658 ~ 5671
Chung JH / 1998 / Small medullary thyroid cancer dectected by genetic mutation screening in men IIa family / J Korean Soc Endocrinol 13 : 230 ~ 239
Chung YJ / 2004 / RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A / Thyroid 14 : 813 ~ 818
Eng C / 1996 / The relationship between specific RET proto- oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consor
Brandi ML / 2001 / Guidelines for diagnosis and therapy of MEN type 1 and type 2 / J Clin Endocrinol Metab 86 : 5658 ~ 5671
Chung JH / 1998 / Small medullary thyroid cancer dectected by genetic mutation screening in men IIa family / J Korean Soc Endocrinol 13 : 230 ~ 239
Chung YJ / 2004 / RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A / Thyroid 14 : 813 ~ 818
Eng C / 1996 / The relationship between specific RET proto- oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consor
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