Hereditary cancer: Why detection is crucial

Authors

  • Ana Osorio Cabrero CNIO (Spanish National Cancer Research Centre), Madrid (Spain).

DOI:

https://doi.org/10.7203/metode.77.2473

Keywords:

hereditary cancer, inheritance patterns, BRCA1, BRCA2, hereditary ovarian and breast cancer syndrome

Abstract

Although just 1% of cancer cases can be considered hereditary, there are currently over 200 described syndromes characterised by familial aggregation of various tumour types. During the twentieth century, many of the genes underlying these syndromes have been identified, leading to a breakthrough in the management of affected families when it comes to identifying whether individuals are at risk or not, and establishing specific preventive measures. However, there is a high percentage of inherited cases for which the cause of predisposition is unknown, making the search for new genes, using the newly available technology, a research priority.

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Author Biography

Ana Osorio Cabrero, CNIO (Spanish National Cancer Research Centre), Madrid (Spain).

Researcher at the Human Genetics Unit. CNIO (Spanish National Cancer Research Centre), Madrid (Spain).

References

Cirulli, E. T. and D. B. Goldstein, 2010. «Uncovering the Roles of Rare Variants in Common Disease Through Whole-Genome Sequencing». Nature Reviews Genetics, 11: 415-425. DOI: <10.1038/nrg2779>.

Friend, S. H. et al., 1986. «A Human DNA Segment with Properties of the Gene that Predisposes to Retinoblastoma and Osteosarcoma». Nature, 323: 643-646. DOI: <10.1038/323643a0>.

Knudson Jr., A. G., 1971. «Mutation and Cancer: Statistical Study of Retinoblastoma». PNAS, Proceedings of the National Academy of Sciences, 68(4): 820-823. DOI: <10.1073/pnas.68.4.820>.

Ponder, B. A.; Antoniou, A.; Dunning, A.; Easton, D. F. and P. D. Pharoah, 2005. «Polygenic Inherited Predisposition to Breast Cancer». Cold Spring Harbor Symposia Quantitative Biology, 70: 35-41. DOI: <10.1101/sqb.2005.70.029>.

Visscher, P. M.; Brown, M. A.; McCarthy, M. I. and J. Yang, 2012. «Five Years of GWAS Discovery». The American Journal of Human Genetics, 90: 7-24. DOI: <10.1016/j.ajhg.2011.11.029>.

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Published

2014-06-01

How to Cite

Osorio Cabrero, A. (2014). Hereditary cancer: Why detection is crucial. Metode Science Studies Journal, (4), 31–35. https://doi.org/10.7203/metode.77.2473
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Issue

The spirit of science (2014)

Section

The thin line. Cancer in the 21st century

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