| 匡夏颖,邵 楠,林 颖.353例遗传性高危乳腺癌患者BRCA1、BRCA2、PALB2基因胚系突变的分布情况研究[J].肿瘤学杂志,2022,28(11):946-950. |
| 353例遗传性高危乳腺癌患者BRCA1、BRCA2、PALB2基因胚系突变的分布情况研究 |
| Distribution of Germline Mutations in BRCA1， BRCA2 and PALB2 Genes in 353 Patients with Hereditary High-risk Breast Cancer |
| 投稿时间：2022-09-28 |
| DOI：10.11735/j.issn.1671-170X.2022.11.B010 |
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| 中文关键词: 乳腺癌 BRCA1基因 BRCA2基因 PALB2基因 胚系突变 遗传 |
| 英文关键词:breast cancer BRCA1 BRCA2 PALB2 germline mutation hereditary |
| 基金项目:广东省自然科学基金面上项目（2017A030313596）；广州市科技计划项目基础与应用基础研究项目（202102020641） |
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| 中文摘要: |
| 摘 要：［目的］通过对女性乳腺癌患者进行胚系基因检测，评估BRCA1、BRCA2、PALB2基因胚系致病/可能致病性突变在高危乳腺癌患者中的分布情况。［方法］ 收集2016年12月1日至2022年4月30日中山大学附属第一医院收治的女性乳腺癌患者，对已进行胚系多基因检测的353例具有遗传性高危因素的女性乳腺癌患者，对她们的检测结果进行分析，评估BRCA1、BRCA2和PALB2基因胚系致病/可能致病性突变患者的病理和临床特征等情况。［结果］ 353例患者中，胚系BRCA1、BRCA2和PALB2致病/可能致病突变者共59例，突变率为16.71%，年轻患者较其他年龄患者的BRCA1突变率更高（P=0.039），相比其他分子分型，三阴性乳腺癌患者的BRCA1突变（P＜0.001）和3个基因的总突变率（P=0.007）都明显更高。和没有肿瘤家族史的患者相比，有肿瘤家族史的患者并没有体现出明显的高突变率。具有2个或2个以上危险因素的患者的基因突变率要明显高于只有1个高危因素的患者（P=0.048）。［结论］ PALB2基因胚系致病/可能致病突变在高危乳腺癌患者中的发生比例较高，其重要性并不亚于BRCA1/2基因，建议将PALB2基因纳入常规乳腺癌胚系基因检测范围，且对具有遗传性高危因素的乳腺癌患者进行包括胚系BRCA1、BRCA2和PALB2基因的常规检测。 |
| 英文摘要: |
| Abstract：［Objective］ To perform a germline genetic testing of BRCA1， BRCA2， PALB2 genes on female breast cancer(BC) patients， so as to evaluate the distribution of the pathogenic/likely pathogenic mutations of those genes in high-risk female BC patients.［Methods］ Clinical and genetic information were gathered and analyzed from 353 BC patients， who had been chosen to carry on a germline genetic testing of BRCA1， BRCA2 and PALB2， treated in The First Affiliated Hospital， Sun Yat-sen University from Dec. 1st， 2016 to Apr， 30th， 2022. Patients should have at least one of the conditions related to high risk of hereditary BC. ［Results］ In 353 BC patients， 59 patients carried a germline pathologic/ likely pathologic genetic mutation(16.71%)， early onset patients had a higher percentage of genetic mutations than the other groups(P=0.039)， triple negative breast cancer patients have more mutation carriers(P=0.007) than patients of other subtypes， especially for BRCA1 mutation(P＜0.001). Patients with family history of malignant tumors did not show a significant difference with those without family history. Patients with two or more risk factors had a higher percentage of mutations than those who have only one factor(P=0.048).［Conclusion］ Patients with hereditary risk factors have high possibility with pathological variants in breast cancer-predisposition genes. We recommend that all breast cancer patients with hereditary risks undergo germline genetic testing， including BRCA1， BRCA2 and PALB2. |
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