Tri-occurrence of attenuated familial adenomatous polyposis, Lynch syndrome, and hereditary breast and ovarian cancer: A case report with implications for treatment and surveillance

被引:0
作者
Fisher, Jamie L. [1 ]
Hale, Amy J. [1 ]
Gollard, Russell [1 ]
机构
[1] OptumCare CancerCare, Las Vegas, NV 89106 USA
关键词
Lynch syndrome; FAP; PMS2; Hereditary breast and ovarian cancer; COLORECTAL-CANCER; APC; MUTATIONS; MSH2;
D O I
10.1016/j.mgene.2021.101001
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The combination of three different germline pathogenic variants: APC (NM_000038.5), PMS2 (NM_000535.5), PALB2 (NM_024675.3) in one individual has not been previously reported. In this brief report, we report an individual with the aforementioned autosomal dominant array of pathogenic variants. This individual was afflicted with stage IV colon cancer at age 31. The interaction of three separate germline pathogenic variants in determining cancer risk is not known; with the advent of widespread genetic panel testing, other multi-mutated genomes will surely be found and will have implications for treatment and surveillance.
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