||Summary of changes
||New protocol taken to cancer genetics reference committee meeting.
||Approved and published on eviQ.
||Discussed at August 2012 reference committee meeting, minor changes currently being discussed.
||As per previous reference committee discussion link to genetic specimen collection removed.
||Protocol reviewed at cancer genetics reference committee meeting.
||Version 2 approved and published on eviQ.
||Sentence added to genetic testing template: " if a decision is made to test this gene(s) as part of a cancer gene panel, care should be taken to select a panel where the individual genes tested have both clinical validity and clinical utility".
||Protocol reviewed at cancer genetics reference committee meeting on 20 October 2016. Changes made to Target population and Factors which influence the pre-test probability of a heritable mutation. Changed to Version 3. Next review in 1 year.
||Transferred to new eviQ website. Version number changed to V.4.
- 'Gene Tests' link in Testing Methods section relabelled as GeneReviews.
- Removed three links to the Clinical molecular genetics society best practice guidelines (CMGS) in Result interpretation section, as webpage no longer available.
Protocol reviewed at the May 2018 RC meeting and discussions continued over email. Version number kept at 4.0, and the following sections were amended:
- Probability of a heritable mutation - figures updated, comment re anaplastic rhabdomyosarcoma and sonic hedgehog subtype medulloblastoma removed, table updated.
- Testing methods - comment re testing for LSF in those with a personal history of haematological malignancy.
- References - updated
Further references used to develop this protocol:
1. Evans, D. G., J. M. Birch, M. Thorneycroft, et al. 2002. "Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome." J Med Genet 39(12):941-944
2. Gonzalez, K. D., C. H. Buzin, K. A. Noltner, et al. 2009. "High frequency of de novo mutations in Li-Fraumeni syndrome." J Med Genet 46(10):689-693
3. Bougeard, G., R. Sesboue, S. Baert-Desurmont, et al. 2008. "Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families." J Med Genet 45(8):535-538
4. McBride, K. A., M. L. Ballinger, E. Killick, et al. 2014. "Li-Fraumeni syndrome: cancer risk assessment and clinical management." Nat Rev Clin Oncol 11(5):260-271
5. Manoukian, S., B. Peissel, V. Pensotti, et al. 2007. "Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families." Eur J Cancer 43(3):601-606
6. Mouchawar, J., C. Korch, T. Byers, et al. 2010. "Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study." Cancer Res 70(12):4795-4800
7. Rath, M. G., S. Masciari, R. Gelman, et al. 2013. "Prevalence of germline TP53 mutations in HER2+ breast cancer patients." Breast Cancer Res Treat 139(1):193-198
8. Melhem-Bertrandt, A., J. Bojadzieva, K. J. Ready, et al. 2012. "Early onset HER2-positive breast cancer is associated with germline TP53 mutations." Cancer 118(4):908-913
9. Wilson, J. R., A. C. Bateman, H. Hanson, et al. 2010. "A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations." J Med Genet 47(11):771-774
10. Varley, J. M., G. McGown, M. Thorncroft, et al. 1999. "Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors." Am J Hum Genet 65(4):995-1006
11. Gozali, A. E., B. Britt, L. Shane, et al. 2012. "Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010." Pediatr Blood Cancer 58(6):905-909