지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 463 - 468 (6page)
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초록· 키워드
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Background: Little is known of the mutation and tumor spectrum of Korean patients with Li-Fraumeni syndrome (LFS). Owing to the rarity of LFS, few cases have been reported in Korea thus far. This study aimed to retrospectively review the mutations and clinical characteristics of Korean patients with LFS.
Methods: TP53 mutation was screened in 89 unrelated individuals at the Samsung Medical Center in Korea, from 2004 to 2015. Six additional mutation carriers were obtained from the literature.
Results: We identified nine different mutations in 14 Korean patients (male to female ratio=0.3:1). Two such frameshift mutations (p.Pro98Leufs*25, p.Pro27Leufs*17) were novel. The recurrent mutations were located at codons 31 (n=2; p.Val31Ile), 175 (n=3; p.Arg175His), and 273 (n=4; p.Arg273His and p.Arg273Cys). The median age at the first tumor onset was 25 yr. Ten patients (71%) developed multiple primary tumors. A diverse spectrum of tumors was observed, including breast (n=6), osteosarcoma (n=4), brain (n=4), leukemia (n=2), stomach (n=2), thyroid (n=2), lung (n=2), skin (n=2), bladder (n=1), nasal cavity cancer (n=1), and adrenocortical carcinoma (n=1).
Conclusions: There was considerable heterogeneity in the TP53 mutations and tumor spectrum in Korean patients with LFS. Our results suggest shared and different LFS characteristics between Caucasian and Korean patients. This is the first report on the mutation spectrum and clinical characteristics from the largest series of Korean LFS patients.
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참고문헌 (25)
참고문헌 신청
Li FP / 1988 / A cancer family syndrome in twenty-four kindreds / Cancer Res 48:5358~5362
Malkin D / 1990 / Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms / Science 250:1233~1238
Ruijs MW / 2010 / TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes / J Med Genet 47:421~428
Masciari S / 2011 / Gastric cancer in individuals with Li-Fraumeni syndrome / Genet Med 13:651~657
Michalarea V / 2014 / EGFR-mutated lung cancer in Li-Fraumeni syndrome / Lung Cancer 85:485~487
Malkin D / 1990 / Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms / Science 250:1233~1238
Ruijs MW / 2010 / TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes / J Med Genet 47:421~428
Masciari S / 2011 / Gastric cancer in individuals with Li-Fraumeni syndrome / Genet Med 13:651~657
Michalarea V / 2014 / EGFR-mutated lung cancer in Li-Fraumeni syndrome / Lung Cancer 85:485~487
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