A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland

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• 作者：Aneta B?k ; Hanna Janiszewska…
• 关键词：Breast cancer ; Constitutional CHEK2 mutation ; Breast cancer familial aggregation
• 刊名：Hereditary Cancer in Clinical Practice
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：12
• 期：1
• 全文大小：194 KB
• 参考文献：Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet 358: pp. 1389-1399 CrossRef
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• 刊物主题：Oncology; Cancer Research; Human Genetics;
• 出版者：BioMed Central
• ISSN：1897-4287

文摘

Background Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of North-Central Poland. Methods 420 women with breast cancer and 435 controls were tested for three protein truncating (IVS2--G-?A, 1100delC, del5395) and one missense (I157T) CHEK2 mutation. IVS2--G-?A and I157T mutations were identified by RFLP-PCR, 1100delC variant was analyzed using an ASO-PCR and del5395 mutation by multiplex-PCR. The statistical tests: the odds ratio (OR) and Fisher’s exact test were used. Results In 33 out of 420 (7.9%) women consecutively diagnosed with breast cancer, we detected one of four analyzed CHEK2 mutations: I157T, 1100delC, IVS2--G-?A or del5395. Together they were not associated with the increased risk of breast cancer (North-Central control group: OR--.6, p--.124; the general Polish population: OR--.4, p--.109). This association was only seen for IVS2--G-?A mutation (OR--.0; p--.039). One of the three truncating CHEK2 mutations (IVS2--G-?A, 1100delC, del5395) was present in 9 of 420 women diagnosed with breast cancer (2.1%) and in 4 of 121 women (3.3%) with a history of breast cancer in a first- and/or second- degree relatives. Together they were associated with the increased risk of disease in these groups, compared to the general Polish population (OR--.1, p--.053 and OR--.2; p--.044, respectively). I157T mutation was detected in 25 of 420 women diagnosed with breast cancer (6.0%) and in 8 of 121 women (6.6%) with a history of breast cancer in first- and/or second- degree relatives. The prevalance of I157T mutation was 4.1% (18/435) in North-Central control group and 4.8% (265/5.496) in the general Polish population. However it was not associated with an increased risk of breast cancer. Conclusion Obtained results suggest that CHEK2 mutations could potentially contribute to the susceptibility to breast cancer. The germline mutations of CHEK2, especially the truncating ones confer low-penetrance breast cancer predisposition that contribute significantly to familial clustering of breast cancer at the population level.