A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe...

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Autores principales: Kwong, Ava, Ho, Cecilia Y. S., Shin, Vivian Y., Au, Chun Hang, Chan, Tsun Leung, Ma, Edmond S. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830606/
https://www.ncbi.nlm.nih.gov/pubmed/33477375
http://dx.doi.org/10.3390/ijms22020889
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author Kwong, Ava
Ho, Cecilia Y. S.
Shin, Vivian Y.
Au, Chun Hang
Chan, Tsun Leung
Ma, Edmond S. K.
author_facet Kwong, Ava
Ho, Cecilia Y. S.
Shin, Vivian Y.
Au, Chun Hang
Chan, Tsun Leung
Ma, Edmond S. K.
author_sort Kwong, Ava
collection PubMed
description The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.
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spelling pubmed-78306062021-01-26 A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient Kwong, Ava Ho, Cecilia Y. S. Shin, Vivian Y. Au, Chun Hang Chan, Tsun Leung Ma, Edmond S. K. Int J Mol Sci Case Report The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers. MDPI 2021-01-17 /pmc/articles/PMC7830606/ /pubmed/33477375 http://dx.doi.org/10.3390/ijms22020889 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kwong, Ava
Ho, Cecilia Y. S.
Shin, Vivian Y.
Au, Chun Hang
Chan, Tsun Leung
Ma, Edmond S. K.
A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title_full A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title_fullStr A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title_full_unstemmed A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title_short A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient
title_sort case report of germline compound heterozygous mutations in the brca1 gene of an ovarian and breast cancer patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7830606/
https://www.ncbi.nlm.nih.gov/pubmed/33477375
http://dx.doi.org/10.3390/ijms22020889
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