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Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
Lang, Guan-Tian; Shi, Jin-Xiu; Huang, Liang; Cao, A-Yong; Zhang, Chen-Hui; Song, Chuan-Gui; Zhuang, Zhi-Gang; Hu, Xin; Huang, Wei; Shao, Zhi-Ming.
Afiliación
  • Lang GT; Department of Breast Surgery, Key Laboratory of Breast Cancer in Shanghai, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, China.
  • Shi JX; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
  • Huang L; Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai (CHGC) and Shanghai Industrial Technology Institute (SITI), Shanghai, China.
  • Cao AY; Department of Breast Surgery, Key Laboratory of Breast Cancer in Shanghai, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, China.
  • Zhang CH; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
  • Song CG; Department of Breast Surgery, Key Laboratory of Breast Cancer in Shanghai, Fudan University Shanghai Cancer Center, Fudan University, Shanghai, China.
  • Zhuang ZG; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China.
  • Hu X; Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai (CHGC) and Shanghai Industrial Technology Institute (SITI), Shanghai, China.
  • Huang W; Department of Breast Surgery, Affiliated Union Hospital, Fujian Medical University, Fuzhou, China.
  • Shao ZM; Department of Breast Surgery, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.
Ann Transl Med ; 8(21): 1417, 2020 Nov.
Article en En | MEDLINE | ID: mdl-33313162
BACKGROUND: Hereditary factors contributed to breast cancer susceptibility. Low BRCA mutation prevalence was demonstrated in previous BRCA mutation screening in Chinese breast cancer patients. Multiple-gene sequencing may assist in discovering detrimental germline mutation in. BRCA: negative breast cancers. METHODS: A total of 384 Chinese subjects with any two of high-risk factors were recruited and screened by next-generation sequencing (NGS) for 30 cancer susceptible genes. Variants with a truncating, initiation codon or splice donor/acceptor effect, or with pathogenicity demonstrated in published literature were classified into pathogenic/likely-pathogenic mutations. RESULTS: In total, we acquired 39 (10.2%) patients with pathogenic/likely-pathogenic germline mutations, including one carrying two distinct mutations. Major mutant non-BRCA genes were MUTYH (n=11, 2.9%), PTCH1 (n=7, 1.8%), RET (n=6, 1.6%) and PALB2 (n=5, 1.3%). Other mutant genes included TP53 (n=3, 0.8%), RAD51D (n=2, 0.5%), CHEK2 (n=1, 0.3%), BRIP1 (n=1, 0.3%), CDH1 (n=1, 0.3%), MRE11 (n=1, 0.3%), RAD50 (n=1, 0.3%) and PALLD (n=1, 0.3%). A splicing germline mutation, MUTYH c.934-2A>G, was a hotspot (9/384, 2.3%) in Chinese breast cancer. CONCLUSIONS: Among BRCA-negative breast cancer patients with high hereditary risk in China, 10.2% carried mutations in cancer associated susceptibility genes. MUTYH and PTCH1 had relatively high mutation rates (2.9% and 1.8%). Multigene testing contributes to understand genetic background of BRCA-negative breast cancer patients with high hereditary risk.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Risk_factors_studies Idioma: En Revista: Ann Transl Med Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: China
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Risk_factors_studies Idioma: En Revista: Ann Transl Med Año: 2020 Tipo del documento: Article País de afiliación: China Pais de publicación: China