{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Li W"],"funding":["Chinese Academy of Medical Sciences Initiative for Innovative Medicine"],"pagination":["26"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6734459"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17"],"pubmed_abstract":["<h4>Background</h4>Little is known about the status of genetic counseling for ovarian cancer in China.<h4>Case presentation</h4>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 <i>BRCA1</i> 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).<h4>Conclusions</h4>Genetic counseling and testing for ovarian cancer in China have fallen behind international trends. Innovative stu"],"journal":["Hereditary cancer in clinical practice"],"pubmed_title":["A family pedigree of malignancies associated with <i>BRCA1</i> pathogenic variants: a reflection of the state of art in China."],"pmcid":["PMC6734459"],"funding_grant_id":["CAMS-2017-I2M-1-002"],"pubmed_authors":["Li W","Wu M","Li L"],"additional_accession":[]},"is_claimable":false,"name":"A family pedigree of malignancies associated with <i>BRCA1</i> pathogenic variants: a reflection of the state of art in China.","description":"<h4>Background</h4>Little is known about the status of genetic counseling for ovarian cancer in China.<h4>Case presentation</h4>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 <i>BRCA1</i> 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).<h4>Conclusions</h4>Genetic counseling and testing for ovarian cancer in China have fallen behind international trends. Innovative stu","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2026-05-01T00:08:25.414Z","creation":"2026-04-07T16:27:02.856Z"},"accession":"S-EPMC6734459","cross_references":{"pubmed":["31516641"],"doi":["10.1186/s13053-019-0126-4"]}}