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Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene

Ovarian cancer is the second most common gynecologic cancer after uterine cancer in the United States. Ovarian cancer ranks sixth in cancer deaths among women, accounting for more deaths than other female reproductive system cancers. Breast metastasis in ovarian cancer is a rare presentation and pre...

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Autores principales: Kowsarnia, Saeedeh, Javadi, Nader
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583985/
https://www.ncbi.nlm.nih.gov/pubmed/34790454
http://dx.doi.org/10.7759/cureus.18691
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author Kowsarnia, Saeedeh
Javadi, Nader
author_facet Kowsarnia, Saeedeh
Javadi, Nader
author_sort Kowsarnia, Saeedeh
collection PubMed
description Ovarian cancer is the second most common gynecologic cancer after uterine cancer in the United States. Ovarian cancer ranks sixth in cancer deaths among women, accounting for more deaths than other female reproductive system cancers. Breast metastasis in ovarian cancer is a rare presentation and predicts a poor prognosis and challenging management. Our case is a 42-year-old Chinese woman with high-grade serous ovarian carcinoma that presents with metastasis to the breast during the course of her illness. Genetic evaluation of the ovarian tumor showed two BRCA1 pathogenic variants. Germline pathogenic variant of c.2110_2111DelAA and a somatic variant of c.4071_4096+14del40. Our patient was offered different treatment regimens but showed progression of her disease. The low survival rate and high recurrence rate in ovarian cancer show that we still need to investigate our current approved treatments. Our report aims to shed light on the genetic evaluation of ovarian tumors and treatment options available in refractory cases of progressive ovarian cancer. Furthermore, we explain our investigational therapy regimen and the reasoning behind it.
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spelling pubmed-85839852021-11-16 Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene Kowsarnia, Saeedeh Javadi, Nader Cureus Genetics Ovarian cancer is the second most common gynecologic cancer after uterine cancer in the United States. Ovarian cancer ranks sixth in cancer deaths among women, accounting for more deaths than other female reproductive system cancers. Breast metastasis in ovarian cancer is a rare presentation and predicts a poor prognosis and challenging management. Our case is a 42-year-old Chinese woman with high-grade serous ovarian carcinoma that presents with metastasis to the breast during the course of her illness. Genetic evaluation of the ovarian tumor showed two BRCA1 pathogenic variants. Germline pathogenic variant of c.2110_2111DelAA and a somatic variant of c.4071_4096+14del40. Our patient was offered different treatment regimens but showed progression of her disease. The low survival rate and high recurrence rate in ovarian cancer show that we still need to investigate our current approved treatments. Our report aims to shed light on the genetic evaluation of ovarian tumors and treatment options available in refractory cases of progressive ovarian cancer. Furthermore, we explain our investigational therapy regimen and the reasoning behind it. Cureus 2021-10-11 /pmc/articles/PMC8583985/ /pubmed/34790454 http://dx.doi.org/10.7759/cureus.18691 Text en Copyright © 2021, Kowsarnia et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Kowsarnia, Saeedeh
Javadi, Nader
Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title_full Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title_fullStr Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title_full_unstemmed Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title_short Ovarian Cancer With Breast Metastasis and Two Pathogenic Variants of BRCA1 Gene
title_sort ovarian cancer with breast metastasis and two pathogenic variants of brca1 gene
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8583985/
https://www.ncbi.nlm.nih.gov/pubmed/34790454
http://dx.doi.org/10.7759/cureus.18691
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