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J Mol Med (Berl). 2015 Apr;93(4):369-81. doi: 10.1007/s00109-015-1260-8. Epub 2015 Feb 14.

Cancer genomics: why rare is valuable.

Author information

1
Genetic Pathology Evaluation Centre, University of British Columbia, Vancouver, BC, Canada, jamshidi.f.k@gmail.com.

Abstract

Rare conditions are sometimes ignored in biomedical research because of difficulties in obtaining specimens and limited interest from fund raisers. However, the study of rare diseases such as unusual cancers has again and again led to breakthroughs in our understanding of more common diseases. It is therefore unsurprising that with the development and accessibility of next-generation sequencing, much has been learnt from studying cancers that are rare and in particular those with uniform biological and clinical behavior. Herein, we describe how shotgun sequencing of cancers such as granulosa cell tumor, endometrial stromal sarcoma, epithelioid hemangioendothelioma, ameloblastoma, small-cell carcinoma of the ovary, clear-cell carcinoma of the ovary, nonepithelial ovarian tumors, chondroblastoma, and giant cell tumor of the bone has led to rapidly translatable discoveries in diagnostics and tumor taxonomies, as well as providing insights into cancer biology.

PMID:
25676695
PMCID:
PMC4366545
DOI:
10.1007/s00109-015-1260-8
[Indexed for MEDLINE]
Free PMC Article

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