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

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 BRC...

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Detalles Bibliográficos
Autores principales: Li, Wenhui, Li, Lei, Wu, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6734459/
https://www.ncbi.nlm.nih.gov/pubmed/31516641
http://dx.doi.org/10.1186/s13053-019-0126-4
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author Li, Wenhui
Li, Lei
Wu, Ming
author_facet Li, Wenhui
Li, Lei
Wu, Ming
author_sort Li, Wenhui
collection PubMed
description 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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spelling pubmed-67344592019-09-12 A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China Li, Wenhui Li, Lei Wu, Ming Hered Cancer Clin Pract Case Report 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. BioMed Central 2019-09-10 /pmc/articles/PMC6734459/ /pubmed/31516641 http://dx.doi.org/10.1186/s13053-019-0126-4 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Li, Wenhui
Li, Lei
Wu, Ming
A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title_full A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title_fullStr A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title_full_unstemmed A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title_short A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
title_sort family pedigree of malignancies associated with brca1 pathogenic variants: a reflection of the state of art in china
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6734459/
https://www.ncbi.nlm.nih.gov/pubmed/31516641
http://dx.doi.org/10.1186/s13053-019-0126-4
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