Department of Medical Oncology, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, Meizhou, China.
Center for Precision Medicine, Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences, No 63 Huangtang Road, Meijiang District, Meizhou, 514031, People's Republic of China.
BMC Cancer. 2022 Aug 2;22(1):842. doi: 10.1186/s12885-022-09943-0.
To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer.
A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions.
The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups.
The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.
研究中国客家乳腺癌和卵巢癌患者中 BRCA1 和 BRCA2 基因突变的流行情况和谱。
对我院收治的 1664 例乳腺癌或卵巢癌患者进行基因检测，采用下一代测序技术分析 BRCA 基因突变，包括编码区和外显子-内含子边界区。
1664 例患者中，乳腺癌患者 1415 例（85.04%），卵巢癌患者 245 例（14.72%），同时患有乳腺癌和卵巢癌的患者 4 例（0.24%）。在 234 例（14.06%）患者中发现了 151 种变异，包括 71 种 BRCA1 变异和 80 种 BRCA2 变异。这 151 种变异包括 58 种致病性变异、8 种可能致病性变异和 85 种意义不明的变异（VUS）。在 BRCA1 的外显子 14 和 BRCA2 的外显子 11 中，分别有 56.25%（18/32）和 65.38%（17/26）的致病性变异（不包括可能致病性变异）分布。在客家人群中，最常见的致病性变异是 BRCA1 基因中的 c.2635G>T（p.Glu879*）（n=7）和 BRCA2 基因中的 c.5164_5165del（p.Ser1722Tyrfs*4）（n=7）。在中国人群中，BRCA1 基因的热点突变 c.5470_5477del 变异在客家人群中未发现。BRCA 基因在客家患者中的变异的流行情况和谱与其他种族不同。
该人群中最常见的致病性变异是 BRCA1 基因中的 c.2635G>T 和 BRCA2 基因中的 c.5164_5165delAG。来自中国南方的客家患者的 BRCA1 和 BRCA2 基因突变的流行情况和谱与其他种族不同。
