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abstract:
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
- Article
- Abstract
- Background
- Methods
- Case presentation
- Discussion
- Conclusions
- Abbreviations
- Acknowledgements
- References
Discussion
Cancer
genetic counseling should be always offered during the work-up of young
patients with epithelial ovarian cancer, in order to screen the
presence of a hereditary syndrome and to improve the oncological
follow-up including intensified surveillance. Clinicians should be
particularly careful to the evaluation of a positive family history of
cancer, being ovarian cancer involved in three different syndromes, such
as site-specific, HBOC and Lynch Syndrome....
Conclusions
The present report finds out two unpublished sequence alterations in exon 11 of the MSH2
gene, one on which can be considered causative of Lynch phenotype.
Moreover, it stresses the importance of the multidisciplinary
onco-genetic counselling in order to correctly frame the hereditary
syndrome, suggest the right genetic test, and offer the most appropriate
management of the cancer risk for the patients and her family members.
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