Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Wednesday, September 07, 2016

Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer



abstract:
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer


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The present report finds out two unpublished sequence alterations in exon 11 of the MSH2 gene, one on which can be considered causative of Lynch phenotype.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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