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携带c.5017_5019del种系变体患者的综合临床特征

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

作者信息

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

机构信息

Department of Surgery, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

Department of Laboratory and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Ann Surg Treat Res. 2022 Dec;103(6):323-330. doi: 10.4174/astr.2022.103.6.323. Epub 2022 Dec 8.

DOI:10.4174/astr.2022.103.6.323
PMID:36601340
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9763777/
Abstract

PURPOSE

We provide evidence for the reclassification of the :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 genes between January 2008 and June 2020 at 10 medical centers in Korea. We retrospectively reviewed 17 probands from 15 families who had the :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 :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 :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.

摘要

目的

通过呈现17例携带该:c.5017_5019del变异患者的临床病理特征、临床结局以及乳腺癌或卵巢癌家族史，为该变异的重新分类提供证据。

方法

本研究纳入了2008年1月至2020年6月期间在韩国10家医疗中心接受基因检测的乳腺癌或卵巢癌患者。我们根据电子病历回顾性分析了15个家庭中17例携带:c.5017_5019del变异的先证者。

结果

我们呈现了来自15个家庭的10例乳腺癌患者和7例卵巢癌患者，这些家庭中共有19例乳腺癌和14例卵巢癌病例。乳腺癌与卵巢癌的比例为1.3:1。携带该变异的乳腺癌患者显示出丰富的乳腺癌或卵巢癌家族史，有8例患者（80.0%）。诊断时的平均年龄为45.4岁，6例患者（60.0%）被归类为激素受体阴性乳腺癌。此外，携带该变异的卵巢癌患者中有4例（57.1%）显示出强烈的乳腺癌和/或卵巢癌家族史。

结论

我们提供了临床证据，支持将:c.5017_5019del重新分类为可能的致病变异（LPV）。重新分类为LPV可能会导致对先证者进行预防性治疗和医学监测、家庭检测建议以及对其家庭进行适当的遗传咨询。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39cb/9763777/e266903d7b26/astr-103-323-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39cb/9763777/d3ad4b22549f/astr-103-323-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39cb/9763777/e266903d7b26/astr-103-323-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39cb/9763777/d3ad4b22549f/astr-103-323-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39cb/9763777/e266903d7b26/astr-103-323-g002.jpg

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