Annotation Detail

Information
Associated Genes
LRP1B
Associated Variants
LRP1B EXON 12-22 DELETION ( ENST00000389484.8 )
LRP1B EXON 12-22 DELETION ( ENST00000389484.8 )
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
A minimum common region of deletion of 0.19Mb, encompassing exons 12–22 of LRP1B4 was observed in 4 patients exhibiting acquired treatment resistance. Transfection of mLRP1B4, a fully functional minigene of LRP1B, in IGROV1 and OVCAR4 ovarian cell lines with low expression of LRP1B4 increased sensitivity to liposomal doxorubicin but not doxorubicin. siRNA knockdown of LRP1B4 in JHOS3 and Kuramochi ovarian cancer cell lines decreased sensitivity to liposomal doxorubicin but not doxorubicin.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/679
Gene URL
https://civic.genome.wustl.edu/links/genes/12146
Variant URL
https://civic.genome.wustl.edu/links/variants/266
Rating
3
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Doxorubicin
Evidence Level
D
Clinical Significance
Resistance
Pubmed
22896685
Drugs
Drug NameSensitivitySupported
DoxorubicinResitance or Non-Reponsetrue