Hereditary cancer: Why detection is crucial


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.


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


  • 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>.

Creative Commons License
Texts in the journal are –unless otherwise indicated– published under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License