Marouf Chaymaa, Hajji Omar, Diakité Brehima, Tazzite Amal, Jouhadi Hassan, Benider Abdellatif, Nadifi Sellama
Laboratory of Genetics and Molecular Pathology-Medical School of Casablanca, 19 rue Tarik Ibn Ziad, P.C 9154 Casablanca, Morocco ; University Hassan II Ain Chock, Center Of Doctoral Sciences "In Health Sciences", Casablanca, Morocco.
Department of Oncology, Littoral Clinic, Casablanca, Morocco.
Springerplus. 2015 Feb 1;4:38. doi: 10.1186/s40064-014-0778-5. eCollection 2015.
The cell-cycle checkpoint kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects has been associated with increased risk for breast cancer. The CHEK2 1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been described in Northern and Eastern European countries. However, the 1100delC mutation has been investigated in different case-control studies and none in Moroccan population. The aim of this study was to evaluate the prevalence of this variant and determine its contribution to the development of breast cancer in sporadic cases and also in members of breast cancer families who tested negative or positive for a deleterious mutation in BRCA1/BRCA2.
In this case-control study we performed the CHEK2 1100delC mutation analysis by ASO-PCR in 134 breast cancer patients and 114 unaffected control individuals. Most of these families had several cases of breast cancer or ovarian cancer (or both).
No CHEK2 1100delC mutations were detected in any of 134 individuals, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer.
Our preliminary genetic analysis are consistent with the reported very low frequency of CHEK2 1100delC mutation in North American populations (compared with Northern Europe), rendering CHEK2 1100delC such as an unlikely to be major breast cancer susceptibility genes.
细胞周期检查点激酶2（CHEK2）是细胞对DNA损伤反应的重要信号转导分子，其缺陷与乳腺癌风险增加有关。据报道，CHEK2 1100delC突变使携带者患乳腺癌的风险增加两倍。该突变的频率在不同人群中有所不同。在北欧和东欧国家，该突变频率最高。然而，在不同的病例对照研究中对1100delC突变进行了调查，而摩洛哥人群中尚未进行相关研究。本研究的目的是评估该变异的患病率，并确定其在散发性乳腺癌病例以及BRCA1/BRCA2有害突变检测呈阴性或阳性的乳腺癌家族成员中对乳腺癌发生的贡献。
在这项病例对照研究中，我们通过等位基因特异性寡核苷酸聚合酶链反应（ASO-PCR）对134例乳腺癌患者和114名未受影响的对照个体进行了CHEK2 1100delC突变分析。这些家族中的大多数有几例乳腺癌或卵巢癌（或两者皆有）。
在134名个体中均未检测到CHEK2 1100delC突变，其中包括59名早年（<40岁）诊断为乳腺癌的女性、10名双侧乳腺癌女性和6名卵巢癌女性。
我们的初步基因分析与北美人群（与北欧相比）中报道的CHEK2 1100delC突变频率非常低一致，这使得CHEK2 1100delC不太可能是主要的乳腺癌易感基因。
