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- Title
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
- Authors
Dixon, Katherine; Young, Sean; Shen, Yaoqing; Thibodeau, My Linh; Fok, Alexandra; Pleasance, Erin; Zhao, Eric; Jones, Martin; Aubert, Geraldine; Armstrong, Linlea; Virani, Alice; Regier, Dean; Gelmon, Karen; Renouf, Dan; Chia, Stephen; Bosdet, Ian; Rassekh, S Rod; Deyell, Rebecca J; Yip, Stephen; Fisic, Ana
- Abstract
Inherited genetic variation has important implications for cancer screening, early diagnosis, and disease prognosis. A role for germline variation has also been described in shaping the molecular landscape, immune response, microenvironment, and treatment response of individual tumors. However, there is a lack of consensus on the handling and analysis of germline information that extends beyond known or suspected cancer susceptibility in large-scale cancer genomics initiatives. As part of the Personalized OncoGenomics program in British Columbia, we performed whole-genome and transcriptome sequencing in paired tumor and normal tissues from advanced cancer patients to characterize the molecular tumor landscape and identify putative targets for therapy. Overall, our experience supports a multidisciplinary and integrative approach to germline data management. This includes a need for broader definitions and standardized recommendations regarding primary and secondary germline findings in precision oncology. Here, we propose a framework for identifying, evaluating, and returning germline variants of potential clinical significance that may have indications for health management beyond cancer risk reduction or prevention in patients and their families.
- Subjects
EARLY detection of cancer; CANCER diagnosis; PROGNOSIS; GERM cells; TUMORS
- Publication
JNCI Cancer Spectrum, 2020, Vol 4, Issue 5, p1
- ISSN
2515-5091
- Publication type
Article
- DOI
10.1093/jncics/pkaa045