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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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Detalles Bibliográficos
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
Descripción
Sumario: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.