A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.
A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.
复制标题
Fanca启动子中的一种新型重复多态性及其与乳腺癌和卵巢癌的关联。
DOI：
10.1186/1471-2407-5-43
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发表时间：
2005-04-29
期刊：
影响因子：
3.8
通讯作者：
Dobrovic, A
中科院分区：
文献类型：
--
作者：
Thompson, E;Dragovic, RL;Stephenson, SA;Eccles, DM;Campbell, IG;Dobrovic, A
FANCA基因是其中突变导致范可尼贫血的基因之一，范可尼贫血是一种罕见的常染色体隐性遗传疾病，其特征为先天性异常、骨髓衰竭和恶性肿瘤易感性。FANCA也是一个潜在的乳腺癌和卵巢癌易感基因。鉴定了一种新的等位基因，其在启动子区具有13个碱基对序列的串联重复。我们筛选了352名乳腺癌患者、390名卵巢癌患者和256名正常对照的生殖系DNA，以确定这两个等位基因中的任何一个的存在是否与乳腺癌或卵巢癌的风险增加相关。正常对照组中重复等位基因的频率为0.34。在乳腺癌患者中，重复等位基因的频率没有显著降低。重复等位基因的频率在卵巢癌患者中显著降低。然而，当恶性和良性肿瘤分开考虑时，只有良性肿瘤的减少才显着。串联重复的等位基因似乎不会改变乳腺癌的风险，但可能作为卵巢癌的低风险保护等位基因。
The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region. We screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer. The duplication allele had a frequency of 0.34 in the normal controls. There was a non-significant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours. The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.
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影响因子：
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作者：
FUJIWARA, Y;TATSUMI, M;SASAKI, MS
通讯作者：
SASAKI, MS
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作者：
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作者：
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通讯作者：
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