Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients
作者: Sumadee De SilvaKamani Hemamala TennekoonAravinda DissanayakeKanishka De SilvaLakshika Jayasekara
作者单位: 1University of Colombo
2National Cancer Research
3Teaching Hospital Jaffna
刊名: Familial Cancer, 2017, Vol.16 (3), pp.329-338
来源数据库: Springer Journal
DOI: 10.1007/s10689-016-9962-9
关键词: BRCA2Hotspot regionsYoung breast cancer patientsSri Lanka
英文摘要: Women with breast carcinoma diagnosed before 40 years of age with a strong familial risk have a greater prevalence of germline BRCA1 or BRCA2 variants than late onset breast cancer. Previously germline variants in BRCA1 and BRCA2 genes were characterized in a cohort of Sri Lankan breast cancer patients unselected for age of onset. This study focused on young breast cancer patients who were screened for previously identified hotspot regions in BRCA2 gene. A total of 48 young breast cancer patients with family history of cancer and 25 healthy controls were studied. Direct sequencing was used to detect pathogenic and other sequence variants in the hotspot regions of BRCA2 gene. Thirty-six sequence variants including seven pathogenic (c.2411_2412delAA/p.Glu804Valfs*2,...
原始语种摘要: Women with breast carcinoma diagnosed before 40 years of age with a strong familial risk have a greater prevalence of germline BRCA1 or BRCA2 variants than late onset breast cancer. Previously germline variants in BRCA1 and BRCA2 genes were characterized in a cohort of Sri Lankan breast cancer patients unselected for age of onset. This study focused on young breast cancer patients who were screened for previously identified hotspot regions in BRCA2 gene. A total of 48 young breast cancer patients with family history of cancer and 25 healthy controls were studied. Direct sequencing was used to detect pathogenic and other sequence variants in the hotspot regions of BRCA2 gene. Thirty-six sequence variants including seven pathogenic (c.2411_2412delAA/p.Glu804Valfs*2,...
全文获取路径: Springer  (合作)
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影响因子:1.935 (2012)

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关键词翻译
关键词翻译
  • breast 胸部
  • pathogenic 病原的
  • cancer 癌症
  • cohort 伙伴
  • focused 聚焦的
  • carcinoma 癌症
  • young 年轻的
  • likely 大概
  • significance 显著性
  • family