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Ref Type Journal Article
PMID (20871615)
Authors Buisson R, Dion-Cote AM, Coulombe Y, Launay H, Cai H, Stasiak AZ, Stasiak A, Xia B, Masson JY
Title Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination.
Journal Nature structural & molecular biology
Vol 17
Issue 10
Date 2010 Oct
URL
Abstract Text Inherited mutations in human PALB2 are associated with a predisposition to breast and pancreatic cancers. PALB2's tumor-suppressing effect is thought to be based on its ability to facilitate BRCA2's function in homologous recombination. However, the biochemical properties of PALB2 are unknown. Here we show that human PALB2 binds DNA, preferentially D-loop structures, and directly interacts with the RAD51 recombinase to stimulate strand invasion, a vital step of homologous recombination. This stimulation occurs through reinforcing biochemical mechanisms, as PALB2 alleviates inhibition by RPA and stabilizes the RAD51 filament. Moreover, PALB2 can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand invasion. Finally, we show that PALB2-deficient cells are sensitive to PARP inhibitors. Our studies provide the first biochemical insights into PALB2's function with piBRCA2 as a mediator of homologous recombination in DNA double-strand break repair.

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Molecular Profile Treatment Approach
PALB2 L1172P PARP Inhibitor (Pan)
PALB2 G1043A PARP Inhibitor (Pan)
PALB2 Q1023* PARP Inhibitor (Pan)
PALB2 P1009Lfs*6 PARP Inhibitor (Pan)
PALB2 K142Nfs*35 PARP Inhibitor (Pan)
PALB2 C882fs PARP Inhibitor (Pan)
PALB2 P104L PARP Inhibitor (Pan)
PALB2 L24P PARP Inhibitor (Pan)
PALB2 Y28C PARP Inhibitor (Pan)
PALB2 G1043D PARP Inhibitor (Pan)
PALB2 L947S PARP Inhibitor (Pan)
PALB2 R421A PARP Inhibitor (Pan)
PALB2 R753* PARP Inhibitor (Pan)
PALB2 Q775* PARP Inhibitor (Pan)
PALB2 L531Cfs*30 PARP Inhibitor (Pan)
PALB2 W912G PARP Inhibitor (Pan)
PALB2 T1030I PARP Inhibitor (Pan)
PALB2 G1043V PARP Inhibitor (Pan)
PALB2 R414K PARP Inhibitor (Pan)
PALB2 L1070P PARP Inhibitor (Pan)
PALB2 L17P PARP Inhibitor (Pan)
PALB2 S387Lfs*14 PARP Inhibitor (Pan)
PALB2 E1010* PARP Inhibitor (Pan)
PALB2 Q60Rfs*7 PARP Inhibitor (Pan)
PALB2 K908fs PARP Inhibitor (Pan)
PALB2 Y409* PARP Inhibitor (Pan)
PALB2 K515* PARP Inhibitor (Pan)
PALB2 K1098* PARP Inhibitor (Pan)
PALB2 R414Q PARP Inhibitor (Pan)
PALB2 inact mut PARP Inhibitor (Pan)
PALB2 S859* PARP Inhibitor (Pan)
PALB2 L35P PARP Inhibitor (Pan)
PALB2 del PARP Inhibitor (Pan)
PALB2 R170Ifs*14 PARP Inhibitor (Pan)
PALB2 I944N PARP Inhibitor (Pan)
PALB2 M723Vfs*21 PARP Inhibitor (Pan)
PALB2 T413A PARP Inhibitor (Pan)
PALB2 G937R PARP Inhibitor (Pan)
PALB2 M296* PARP Inhibitor (Pan)
PALB2 Y1108fs PARP Inhibitor (Pan)
PALB2 L659Qfs*3 PARP Inhibitor (Pan)
PALB2 R1086Efs*9 PARP Inhibitor (Pan)
PALB2 R414A PARP Inhibitor (Pan)
PALB2 Y551* PARP Inhibitor (Pan)
PALB2 F440fs PARP Inhibitor (Pan)
PALB2 D595Mfs*4 PARP Inhibitor (Pan)
PALB2 K25* PARP Inhibitor (Pan)
PALB2 K353Nfs*3 PARP Inhibitor (Pan)
PALB2 Q1056* PARP Inhibitor (Pan)
PALB2 L972Q PARP Inhibitor (Pan)
PALB2 R37H PARP Inhibitor (Pan)
PALB2 S779* PARP Inhibitor (Pan)
PALB2 T413Hfs*11 PARP Inhibitor (Pan)
PALB2 T351Rfs*4 PARP Inhibitor (Pan)
PALB2 K353Ifs*7 PARP Inhibitor (Pan)
PALB2 C77Vfs*100 PARP Inhibitor (Pan)
PALB2 V410A PARP Inhibitor (Pan)
PALB2 L671* PARP Inhibitor (Pan)
PALB2 T494Lfs*67 PARP Inhibitor (Pan)
PALB2 S64L PARP Inhibitor (Pan)
PALB2 A1025R PARP Inhibitor (Pan)
PALB2 L947F PARP Inhibitor (Pan)
PALB2 E407* PARP Inhibitor (Pan)
PALB2 E230* PARP Inhibitor (Pan)
PALB2 K346Tfs*13 PARP Inhibitor (Pan)
PALB2 F1181Lfs*54 PARP Inhibitor (Pan)
PALB2 R1086* PARP Inhibitor (Pan)
PALB2 loss PARP Inhibitor (Pan)
PALB2 W1038* PARP Inhibitor (Pan)
PALB2 Q988* PARP Inhibitor (Pan)
PALB2 N821Tfs*25 PARP Inhibitor (Pan)
PALB2 E3* PARP Inhibitor (Pan)
PALB2 E837* PARP Inhibitor (Pan)
PALB2 E181* PARP Inhibitor (Pan)
PALB2 I1037T PARP Inhibitor (Pan)
PALB2 L961P PARP Inhibitor (Pan)
PALB2 L1027R PARP Inhibitor (Pan)
PALB2 Y1183* PARP Inhibitor (Pan)
PALB2 Q790* PARP Inhibitor (Pan)
PALB2 R131fs PARP Inhibitor (Pan)
PALB2 N280Tfs*8 PARP Inhibitor (Pan)
PALB2 P378Lfs*46 PARP Inhibitor (Pan)
PALB2 Q348* PARP Inhibitor (Pan)
PALB2 E669fs PARP Inhibitor (Pan)
PALB2 W1140G PARP Inhibitor (Pan)
PALB2 P113Qfs*64 PARP Inhibitor (Pan)
PALB2 T413S PARP Inhibitor (Pan)
PALB2 L21P PARP Inhibitor (Pan)
PALB2 Q921Tfs*7 PARP Inhibitor (Pan)
PALB2 S172fs PARP Inhibitor (Pan)
PALB2 G808* PARP Inhibitor (Pan)
PALB2 P1097R PARP Inhibitor (Pan)
PALB2 L24S PARP Inhibitor (Pan)
PALB2 N497Mfs*64 PARP Inhibitor (Pan)
PALB2 N344Tfs*2 PARP Inhibitor (Pan)
PALB2 R414* PARP Inhibitor (Pan)
PALB2 Y28P PARP Inhibitor (Pan)
PALB2 K1048Rfs*27 PARP Inhibitor (Pan)
PALB2 S417A PARP Inhibitor (Pan)
PALB2 H46Y PARP Inhibitor (Pan)
PALB2 W898* PARP Inhibitor (Pan)
PALB2 Q251* PARP Inhibitor (Pan)
PALB2 S979Vfs*11 PARP Inhibitor (Pan)
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 inact mut Advanced Solid Tumor sensitive Olaparib Preclinical Actionable In a preclinical study, Lynparza (olaparib) resulted in decreased cell survival in a PALB2 deficient cell line derived from a Fanconi anemia patient (PMID: 20871615). 20871615