Three germline mutations in the TP53 gene
Three germline mutations in the TP53 gene
复制标题
TP53 基因的三个种系突变
作者：
RS Cornelis;M. van Vliet;M. van de Vijver;H. Vasen;P. Voute;B. Top;P. Khan;P. Devilee;C. Cornelisse
报告了TP 53肿瘤抑制基因中的三个种系突变，其中两个以前没有报道过。在符合Li-Fraumeni综合征定义的一个家族的3名患者中发现TP 53密码子265处的错义突变。在一名4岁时患有横纹肌肉瘤并随后在22岁时患乳腺癌的妇女中发现了密码子306的无义突变。她是一个类似李弗劳梅尼家族的成员，但突变的父母起源无法追溯。最后，在筛选一系列141例散发性乳腺肿瘤中TP 53的体细胞改变时，我们在一名26岁诊断为乳腺癌的妇女中检测到密码子235的宪法错义突变，并在4年后复发。复发，而不是原发性肿瘤，显示了密码子245处的额外错义突变以及野生型等位基因的丢失。这表明245突变对肿瘤进展特别重要，并且在各种生殖系TP 53突变之间可能存在癌症易感性潜力方面的异质性。1997年，《突变》9：157-163。© 1997 Wiley利斯公司
Three germline mutations in the TP53 tumor‐suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li‐Fraumeni syndrome. A nonsense mutation in codon 306 was found in a woman who had had a rhabdomyosarcoma at age 4 and a subsequent breast cancer at age 22. She was part of a Li‐Fraumeni‐like family, but the parental origin of the mutation could not be traced. Finally, while screening for somatic alterations in TP53 in a series of 141 sporadic breast tumors, we detected a constitutional missense mutation in codon 235 in a woman diagnosed with breast cancer at age 26 and a recurrence 4 years later. The recurrence, but not the primary tumor, showed an additional missense mutation at codon 245 as well as loss of the wild‐type allele. This suggests that the 245 mutation was particularly important for tumor progression and that there might exist heterogeneity in terms of cancer predisposition potential among the various germline TP53 mutations. Hum Mutat 9:157–163, 1997. © 1997 Wiley‐Liss, Inc.
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影响因子：
56.9
作者：
MALKIN, D;LI, FP;FRIEND, SH
通讯作者：
FRIEND, SH
影响因子：
11.2
作者：
Julian;M. Birch;A. Hartley;K. Tricker;Jane Presser;Alison;Condie;A. Kelsey;Martin;Harris;Patricia;H. M. Jones;Áine Binchy;D. Crowther;A. Craft;Osborne;B. Eden;D. Gareth;R. Evans;E. B. Thompson;R. Mann;John F Martin;E. Mitchell;Mauro F. SantibÃ
通讯作者：
Julian;M. Birch;A. Hartley;K. Tricker;Jane Presser;Alison;Condie;A. Kelsey;Martin;Harris;Patricia;H. M. Jones;Áine Binchy;D. Crowther;A. Craft;Osborne;B. Eden;D. Gareth;R. Evans;E. B. Thompson;R. Mann;John F Martin;E. Mitchell;Mauro F. SantibÃ
影响因子：
56.9
作者：
HOLLSTEIN, M;SIDRANSKY, D;HARRIS, CC
通讯作者：
HARRIS, CC
影响因子：
158.5
作者：
MALKIN, D;JOLLY, KW;STRONG, LC
通讯作者：
STRONG, LC
儿童软组织肉瘤幸存者及其亲属的癌症。
DOI：
--
发表时间：
1987
期刊：
Journal of the National Cancer Institute
影响因子：
--
作者：
Strong,LC;Stine,M;Norsted,TL
通讯作者：
Norsted,TL