Abstract P2-09-25: Constitutional mosaicism in hereditary cancer genes

Conclusion: Constitutional mosaic mutations may be an under-recognized cause of cancer and unique clinical considerations apply to such cases. First, a mosaic patient may not show the same gene-associated phenotypes as patients with inherited heterozygous mutations in the same gene. Second, patients with syndromic presentations who tested negative for the indicated gene(s) by traditional methodologies may warrant reexamination by NGS. Similarly, patients with heterozygous mutations (50-50) may have a mosaic parent, for whom the mutation could be missed by traditional testing. Testing of family members beyond first degree relatives of a mosaic patient is unlikely to modify risk assessments, unlike the situation for patients with inherited heterozygous mutations. Finally, apparent mosaicism may warrant an evaluation for a underlying haematologic malignancy. We note that the prevalence of mosaic findings in hereditary cancer genes is currently unclear but may higher than once thought. Further clinical research on this topic is clearly warranted.(1) Campbell et al., AJHG, 2014(2) Acuna-Hildago et al., AJHG, 2015(3) Friedman et al., SABCS 2014; BJC 2015.Citation Format: Lincoln S, Tan C, Kennemer M, Powers M, Monzon F. Constitutional mosaicism in hereditary cancer genes. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P2-09-25.
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Poster Session Abstracts Source Type: research