BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.
BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.
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BRCA1 5382INSC突变在苏格兰零星和家族性乳房和卵巢癌中。
DOI：
10.1038/bjc.1997.233
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发表时间：
1997
影响因子：
8.8
通讯作者：
Warner, JP
中科院分区：
文献类型：
--
作者：
Mullen, P;Miller, WR;Mackay, J;Fitzpatrick, DR;Langdon, SP;Warner, JP
为了检测BRCA1 5382insC突变，建立了一种限制酶切点产生聚合酶链式反应(RG-PCR)的方法，该突变已在多个明显无关的乳腺癌/卵巢癌家系中被报道。该检测方法已用于筛查当地人群中250名乳腺癌患者(年龄19-86岁)和80名卵巢癌患者(年龄25-90岁)的肿瘤DNA，这些患者没有已知的家族病史。总共有0/80(0%)的卵巢和1/250(0.4%)的乳腺肿瘤DNA被发现有5382insC突变。唯一的阳性病例是一名26岁的妇女(BC185)，没有已知的家族史。进行这项分析的原因之一是，先前已证明5382insC突变与一个患有乳腺癌/卵巢癌的非常大的苏格兰“West Lothian”家族的疾病分离。为了研究这一明显孤立的病例与已知家系是否可能相关，我们分析了标记D17S855、D17S1322、D17S1323和D17S1327的单倍型。除D17S1327外，大家系中的突变单倍型与所有其他5382insC突变家系报道的单倍型相同。这意味着在该家族常见的祖先单倍型的端粒末端发生了重组事件。由于我们确认的这例孤立病例携带的是“完整的”普通单倍型，因此她不太可能与西洛锡安家族有密切关系。
A restriction site-generating polymerase chain reaction (RG-PCR) assay was developed to detect the BRCA1 5382insC mutation that has been reported in multiple, apparently unrelated breast/ovarian carcinoma families. The assay has been used to screen tumour DNA from 250 breast cancer patients (aged 19-86 years) and from 80 ovarian cancer patients (aged 25-90 years) in a local population of patients with no known family history. Altogether, 0/80 (0%) ovarian and 1/250 (0.4%) breast tumour DNAs were found to have the 5382insC mutation. The sole positive case was a 26-year-old woman (BC185) with no known family history. One of the reasons for carrying out this analysis was that the 5382insC mutation had previously been shown to segregate with the disease in a very large Scottish 'West Lothian' kindred having breast/ovarian carcinoma. To investigate whether this apparently isolated case and the known family might be related, haplotypes for the markers D17S855, D17S1322, D17S1323 and D17S1327 were analysed. The mutant haplotype in the large kindred was identical to that reported in all other 5382insC mutation families for all markers with the exception of D17S1327. This implies that there has been a recombination event at the telomeric end of common ancestral haplotype in this family. Since the isolated case we identified carries the 'complete' common haplotype, it is unlikely that she is closely related to the West Lothian family.
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影响因子：
56.9
作者：
FUTREAL, PA;LIU, QY;WISEMAN, R
通讯作者：
WISEMAN, R
影响因子：
30.8
作者：
FRIEDMAN, LS;OSTERMEYER, EA;KING, MC
通讯作者：
KING, MC
影响因子：
64.8
作者：
WEISSENBACH, J;GYAPAY, G;LATHROP, M
通讯作者：
LATHROP, M
影响因子：
30.8
作者：
CASTILLA, LH;COUCH, FJ;WEBER, BL
通讯作者：
WEBER, BL
影响因子：
3.5
作者：
NEUHAUSEN, SL;SWENSEN, J;GOLDGAR, DE
通讯作者：
GOLDGAR, DE