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PMID: 27721756 已发表 · epublish 英语

Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis.

Case reports in oncology ·第 9 卷 ·第 2 期 ·0000-00-00

Castro Michael, Vierkoetter Koah, Prager Douglas, Montgomery Shasta, Sedgwick Kristin

摘要

Synchronous cancers have occasionally been detected at initial diagnosis among patients with breast and ovarian cancer. However, simultaneous coexistence and diagnosis of breast and pancreas cancer has not previously been reported.,Paternal transmission of a germline BRCA2 mutation to a patient who was diagnosed at age 40 with locally advanced breast and pancreas cancer is presented. Somatic genomic analysis of both cancers with next-generation DNA sequencing confirmed the germline result and reported a variety of variants of unknown significance alterations, of which two were present in both the breast and pancreas cancers.,The possibility that genomic alterations could have been responsible for modulating the phenotypic or clinical expression of this rare presentation is considered. The authors call attention to the practice of privatizing the clinicogenetic information gained from genetic testing and call for health policy that will facilitate sharing in order to advance the outcomes of patients diagnosed with hereditary cancers.

关键词
BRCA2 Breast cancer CREBBP FAT1 Health policy Hybrid capture Next-generation sequencing Pancreas cancer
文献信息
期刊
Case reports in oncology
期刊简称
Case Rep Oncol
ISSN
1662-6575
发表日期
0000-00-00
收录日期
2016-10-10
更新日期
2016-11-02
语言
英语
国家/地区
Switzerland
NLM ID
101517601
外部链接
PubMed 原文
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