论文部分内容阅读
背景与目的:MUTYH基因变异与结直肠癌患癌风险升高有关,但其突变与乳腺癌发生的相关性尚不明确,该研究探讨MUTYH c.892-2A>G剪切位点突变在中国家族性乳腺癌中的意义。方法:采用二代测序(next generation sequencing,NGS)方法检测95个家族性乳腺癌患者及亲属MUTYH基因突变情况,并与BRCA1、BRCA2基因突变情况进行比较。结果:95个家系224名受试者中有4个家系共7名受试者检出MUTYHc.892-2A>G突变,突变率为3.1%,其中只有1例先证者检出MUTYH c.892-2A>G突变。95个家系中也只有1例先证者检出携带BRCA1突变;5个家系中共9名受试者检出携带BRCA2突变,突变率为4.0%。MUTYH c.892-2A>G突变人数分别与BRCA2、BRCA1突变人数相比较,不存在基因共突变现象。结论:MUTYH c.892-2A>G突变虽然在有乳腺癌家族史的高危正常人群中突变率较高,但很可能是低外显的乳腺癌发生相关的致病位点。
BACKGROUND & OBJECTIVE: Mutations in MUTYH gene are associated with an increased risk of cancer in colorectal cancer. However, the correlation between MUTYH gene mutation and breast cancer is not yet clear. The purpose of this study was to investigate whether mutation of MUTYH c.892-2A> G in China The significance of familial breast cancer. Methods: Mutations of MUTYH gene in 95 familial breast cancer patients and their relatives were detected by the next generation sequencing (NGS) method and compared with the BRCA1 and BRCA2 gene mutations. Results: Four out of 224 pedigrees in 95 pedigrees had MUTYHc.892-2A> G mutation in a total of 7 subjects. The mutation rate was 3.1%. Only 1 of the 224 pedigrees had MUTYH c. 892-2A> G mutation. Only 1 out of 95 pedigrees detected a BRCA1 mutation; nine of 5 pedigrees detected a BRCA2 mutation with a mutation rate of 4.0%. MUTYH c.892-2A> G mutation number and BRCA2, BRCA1 mutation compared to the number, there is no co-gene mutation phenomenon. CONCLUSIONS: Although MUTYH c.892-2A> G mutation has a high mutation rate in high-risk normal population with a family history of breast cancer, it is likely to be associated with low-grade breast cancer.