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A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
Hereditary Cancer in Clinical Practice ( IF 1.7 ) Pub Date : 2019-09-10 , DOI: 10.1186/s13053-019-0126-4 Wenhui Li 1 , Lei Li 1 , Ming Wu 1
Hereditary Cancer in Clinical Practice ( IF 1.7 ) Pub Date : 2019-09-10 , DOI: 10.1186/s13053-019-0126-4 Wenhui Li 1 , Lei Li 1 , Ming Wu 1
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BackgroundLittle is known about the status of genetic counseling for ovarian cancer in China.Case presentationWe report a four-generation Chinese family with several types of cancer. The proband was a patient with high-grade serous ovarian cancer (HGSOC) who was found to harbor a pathogenic BRCA1 variant. Cosegregation analysis identified 7 of 9 relatives with the same deleterious variant. One month after the genetic test, one female carrier 54 years of age was diagnosed with stage IVB HGSOC, and another female 55 years of age accepted risk-reducing salpingo-oophorectomy, which revealed occult cancer of the fallopian tube (Stage IA).ConclusionsGenetic counseling and testing for ovarian cancer in China have fallen behind international trends. Innovative studies and practices are urgently needed to establish models for cancer screening, prevention and treatment.
更新日期：2019-09-10
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