CHEK2基因中的乳腺癌低 penetrance 等位基因1100delC：在中国家族性乳腺癌人群中不存在。 （注：“penetrance”常见释义为“外显率” ，这里可理解为相关基因表现出的效应程度等意思，但因未明确要求解释，所以按原文翻译）
Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population.
作者信息
Chen Wang, Yurong Shi, Liansheng Ning
机构信息
Centre Laboratory of Oncology, Tianjin Medical University Cancer Hospital, Tianjin, China.
出版信息
Adv Ther. 2008 May;25(5):496-501. doi: 10.1007/s12325-008-0057-3.
INTRODUCTION
The 1100delC CHEK2 allele has been associated with a 1.4-to 4.7-fold increased risk of breast cancer in women carrying this mutation. Our study investigated the frequency of this allele in a Chinese population.
METHODS
Using touchdown polymerase chain reaction, we sequenced the CHEK2.1100delC mutation in 74 breast cancer patients with a family history of breast cancer and 50 control subjects.
RESULTS
We did not find the CHEK2.1100delC mutation in any of the Chinese subjects. However, another missense mutation, 1111C>T (His371Tyr), was found in a familial breast cancer patient, but not in any other subjects.
CONCLUSION
The CHEK2.1100delC mutation may be a rare variant in Chinese populations and may not contribute to predisposition for familial breast cancer in China. However, there may be an association between genetic susceptibility to breast cancer in China and the variant 1111C>T.
引言
携带1100delC CHEK2等位基因的女性患乳腺癌的风险增加了1.4至4.7倍。我们的研究调查了该等位基因在中国人群中的频率。
方法
采用降落聚合酶链反应，我们对74例有乳腺癌家族史的乳腺癌患者和50例对照者的CHEK2.1100delC突变进行了测序。
结果
我们在中国受试者中未发现CHEK2.1100delC突变。然而，在一名家族性乳腺癌患者中发现了另一个错义突变1111C>T（His371Tyr），但在其他受试者中未发现。
结论
CHEK2.1100delC突变在中国人群中可能是一种罕见变异，可能与中国家族性乳腺癌易感性无关。然而，中国乳腺癌的遗传易感性可能与1111C>T变异有关。
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