Characterization of a novel germline BRCA1 splice variant, c.5332+4delA

PURPOSE: Germline mutations in BRCA1 and BRCA2 confer a significant increase in risk for cancer, and determining pathogenicity of a BRCA variant can guide the clinical management of the disease. About 1/3 of BRCA1 variants reported in the public databases have uncertain clinical significance due to...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Breast Cancer Res Treat
Hlavní autoři: Yang, Ciyu, Jairam, Sowmya, Amoroso, Kimberly A., Robson, Mark E., Walsh, Michael F., Zhang, Liying
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6788766/
https://ncbi.nlm.nih.gov/pubmed/29185120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10549-017-4595-8
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky