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Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant

PURPOSE: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. METHODS: This study included breast or ovarian cancer p...

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Autores principales: Bang, Yoon Ju, Kwon, Won Kyung, Kim, Jong-Won, Lee, Jeong Eon, Jung, Boo Yeon, Kim, Mina, Kim, Jisun, An, Jeongshin, Jung, Seung Pil, Kim, Hong-Kyu, Kim, Zisun, Youn, Hyun Jo, Ryu, Jai Min, Kim, Sung-Won
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Surgical Society 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763777/
https://www.ncbi.nlm.nih.gov/pubmed/36601340
http://dx.doi.org/10.4174/astr.2022.103.6.323
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author Bang, Yoon Ju
Kwon, Won Kyung
Kim, Jong-Won
Lee, Jeong Eon
Jung, Boo Yeon
Kim, Mina
Kim, Jisun
An, Jeongshin
Jung, Seung Pil
Kim, Hong-Kyu
Kim, Zisun
Youn, Hyun Jo
Ryu, Jai Min
Kim, Sung-Won
author_facet Bang, Yoon Ju
Kwon, Won Kyung
Kim, Jong-Won
Lee, Jeong Eon
Jung, Boo Yeon
Kim, Mina
Kim, Jisun
An, Jeongshin
Jung, Seung Pil
Kim, Hong-Kyu
Kim, Zisun
Youn, Hyun Jo
Ryu, Jai Min
Kim, Sung-Won
author_sort Bang, Yoon Ju
collection PubMed
description PURPOSE: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. METHODS: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. RESULTS: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). CONCLUSION: We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families.
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spelling pubmed-97637772023-01-03 Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant Bang, Yoon Ju Kwon, Won Kyung Kim, Jong-Won Lee, Jeong Eon Jung, Boo Yeon Kim, Mina Kim, Jisun An, Jeongshin Jung, Seung Pil Kim, Hong-Kyu Kim, Zisun Youn, Hyun Jo Ryu, Jai Min Kim, Sung-Won Ann Surg Treat Res Original Article PURPOSE: We provide evidence for the reclassification of the BRCA1:c.5017_5019del variant by presenting the clinicopathological characteristics, clinical outcomes, and family history of breast or ovarian cancer in 17 patients with this variant. METHODS: This study included breast or ovarian cancer patients tested for BRCA1/2 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the BRCA1:c.5017_5019del variant according to the electronic medical records. RESULTS: We present 10 breast cancer patients and 7 ovarian cancer patients from 15 families identified as having BRCA1:c.5017_5019del and a total of 19 cases of breast cancer and 14 cases of ovarian cancer in these families. The ratio of breast-to-ovarian cancer was 1.3:1. Breast cancer patients with this variant showed a rich family history of breast or ovarian cancer, 8 patients (80.0%). The mean age at diagnosis was 45.4 years and 6 patients (60.0%) were categorized into hormone-receptor–negative breast cancer. Also, the ovarian cancer patients with this variant showed strong family histories of breast and/or ovarian cancer in 4 patients (57.1%). CONCLUSION: We presented clinical evidence for the reclassification of BRCA1:c.5017_5019del as a likely pathogenic variant (LPV). Reclassification as LPV could result in the prophylactic treatment and medical surveillance of probands, family testing recommendations, and appropriate genetic counseling of their families. The Korean Surgical Society 2022-12 2022-12-08 /pmc/articles/PMC9763777/ /pubmed/36601340 http://dx.doi.org/10.4174/astr.2022.103.6.323 Text en Copyright © 2022, the Korean Surgical Society https://creativecommons.org/licenses/by-nc/4.0/Annals of Surgical Treatment and Research is an Open Access Journal. All articles are distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Bang, Yoon Ju
Kwon, Won Kyung
Kim, Jong-Won
Lee, Jeong Eon
Jung, Boo Yeon
Kim, Mina
Kim, Jisun
An, Jeongshin
Jung, Seung Pil
Kim, Hong-Kyu
Kim, Zisun
Youn, Hyun Jo
Ryu, Jai Min
Kim, Sung-Won
Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title_full Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title_fullStr Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title_full_unstemmed Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title_short Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant
title_sort comprehensive clinical characterization of patients with brca1: c.5017_5019del germline variant
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763777/
https://www.ncbi.nlm.nih.gov/pubmed/36601340
http://dx.doi.org/10.4174/astr.2022.103.6.323
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