A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China

Published on 2019-09-10T04:57:22Z (GMT) by
Abstract Background Little is known about the status of genetic counseling for ovarian cancer in China. Case presentation We 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). Conclusions Genetic 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.

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Li, Wenhui; Li, Lei; Wu, Ming (2019): A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4659950.v1