Abstract
BRCA1 and BRCA2 genes mutations increase the risk of breast and ovarian cancer. Primary diagnosis of ovarian cancer is a complicated task due to the lack of effective screening programs, in this regard, medical and genetic counseling of patients with a family history is one of the important steps to develop an optimal strategy for the management of patients. In this article is presented an analysis of a clinical case of a patient with bilateral metachronous breast and ovarian cancer with a detected germinal mutation 5382insС in the BRCA1 gene.
Highlights
Герминальные мутации в генах BRCA1 и BRCA2 ассоциированы с высоким риском развития одно- и двустороннего рака молочной железы и рака яичников
BRCA1 and BRCA2 genes mutations increase the risk of breast and ovarian cancer
Primary diagnosis of ovarian cancer is a complicated task due to the lack of effective screening programs, in this regard, medical and genetic counseling of patients with a family history is one of the important steps to develop an optimal strategy for the management of patients
Summary
17: 43057062-43057063 (GRCh38) GRCh38 UCSC 17: 41209079-41209080 (GRCh37) GRCh37 UCSC. Функциональная значимость герминальной мутации NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) с характеристикой синдромальной патологии.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
