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| Ref Type | Journal Article | ||||||||||||
| PMID | (31586400) | ||||||||||||
| Authors | Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W, Monteiro AN, Carvalho MA, Simard J, Masson JY | ||||||||||||
| Title | A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor. | ||||||||||||
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| Abstract Text | While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer. Although hundreds of missense variants in PALB2 have been identified in patients to date, only a few have clear functional and clinical relevance. Herein, we investigate the effects of 44 PALB2 variants of uncertain significance found in breast cancer patients and provide detailed analysis by systematic functional assays. Our comprehensive functional analysis reveals two hotspots for potentially deleterious variations within PALB2, one at each terminus. PALB2 N-terminus variants p.P8L [c.23C>T], p.Y28C [c.83A>G], and p.R37H [c.110G>A] compromised PALB2-mediated homologous recombination. At the C-terminus, PALB2 variants p.L947F [c.2841G>T], p.L947S [c.2840T>C], and most strikingly p.T1030I [c.3089C>T] and p.W1140G [c.3418T>C], stood out with pronounced PARP inhibitor sensitivity and cytoplasmic accumulation in addition to marked defects in recruitment to DNA damage sites, interaction with BRCA2 and homologous recombination. Altogether, our findings show that a combination of functional assays is necessary to assess the impact of germline missense variants on PALB2 function, in order to guide proper classification of their deleteriousness. | ||||||||||||
| Molecular Profile | Treatment Approach |
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| Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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| Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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| Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
|---|---|---|---|---|---|
| PALB2 | P4L | missense | no effect - predicted | PALB2 P4L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P4L results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | P8L | missense | unknown | PALB2 P8L lies within the DNA-binding and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P8L demonstrates subcellular localization, recruitment to DNA damage sites, and Brca1 binding similar to wild-type Palb2 (PMID: 31586400), and leads to homology-directed DNA repair activity similar to wild-type Palb2 in one study (PMID: 31636395), but results in impaired homology-directed DNA repair activity, reduced Rad51 foci formation, and fails to rescue PARP inhibitor sensitivity in PALB2-null cells in another study (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | K18R | missense | unknown | PALB2 K18R lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K18R demonstrates subcellular localization, BRCA1 binding, recruitment to DNA damage sites, and RAD51 foci formation similar to wild-type Palb2 (PMID: 31586400, PMID: 28319063), and retains homologous repair activity in culture (PMID: 31586400, PMID: 33964450), but results in decreased homologous repair activity in culture in another study (PMID: 28319063), and fails to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | Y28C | missense | unknown | PALB2 Y28C lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). Y28C results in decreased Brca1 binding and Rad51 foci formation (PMID: 28319063, PMID: 31586400), and impaired homology-directed DNA repair activity in cultured cells in one study (PMID: 28319063, PMID: 31586400, PMID: 31757951), but results in intermediate homology-directed DNA repair in a reporter assay (PMID: 33964450), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | K30N | missense | no effect | PALB2 K30N lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K30N results in homology-directed DNA repair (PMID: 28319063, PMID: 31586400, PMID: 33964450) and BRCA1 binding similar to wild-type Palb2, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400). | |
| PALB2 | L32V | missense | no effect - predicted | PALB2 L32V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L32V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | L35P | missense | loss of function | PALB2 L35P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L35P confers a loss of function to the Palb2 protein as demonstrated by a loss of Brca1 binding, Rad51 foci formation, and homology-directed DNA repair activity in cultured cells, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells (PMID: 28319063, PMID: 31586400, PMID: 31757951). | |
| PALB2 | R37H | missense | unknown | PALB2 R37H lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R37H results in decreased Brca1 binding and recruitment to DNA damage sites (PMID: 31757951), reduced Rad51 foci formation and intensity (PMID: 31586400), impaired homology-directed DNA repair activity, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400, PMID: 31757951), but in other studies demonstrates Brca1 binding and recruitment to DNA damage sites similar to wild-type Palb2 (PMID: 28319063, PMID: 31586400), and homology-directed DNA repair similar to wild-type in a reporter assay (PMID: 33964450), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | H46Y | missense | loss of function - predicted | PALB2 H46Y lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). H46Y results in subcellular localization, RAD51 foci formation, and homologous repair activity similar to wild-type Palb2 in cultured cells and BRCA1 binding similar to wild-type protein in a mammalian two-hybrid assay, but fails to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to lead to a loss of Palb2 protein function. | |
| PALB2 | P65L | missense | no effect - predicted | PALB2 P65L lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P65L demonstrates BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | I76V | missense | no effect - predicted | PALB2 I76V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). I76V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | V78I | missense | no effect | PALB2 V78I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). V78I demonstrates homology-directed DNA repair activity comparable to wild-type Palb2 in culture (PMID: 31636395), and results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400). | |
| PALB2 | K81R | missense | no effect - predicted | PALB2 K81R lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). K81R results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | E94K | missense | no effect - predicted | PALB2 E94K lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E94K results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | G115V | missense | no effect - predicted | PALB2 G115V lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). G115V results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | T124I | missense | no effect - predicted | PALB2 T124I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). T124I results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | L169I | missense | unknown | PALB2 L169I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L169I demonstrates subcellular localization and recruitment to laser-induced DNA damage sites similar to wild-type Palb2, results in decreased BRCA1 binding in a mammalian two-hybrid assay, reduced RAD51 foci formation and decreased homologous repair activity in one study (PMID: 31586400), but demonstrates homologous repair activity similar to wild-type Palb2 in another study (PMID: 31636395) and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | P207R | missense | no effect - predicted | PALB2 P207R lies within the DNA-binding, and BRCA1-interacting regions of the Palb2 protein (UniProt.org). P207R results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | P210L | missense | no effect | PALB2 P210L lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). P210L retains homology-directed DNA repair activity in cultured cells (PMID: 31636395, PMID: 31757951), results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400) | |
| PALB2 | T317P | missense | no effect - predicted | PALB2 T317P lies within the DNA-binding, and BRCA1-interacting regions of the Palb2 protein (UniProt.org). T317P results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | S319Y | missense | no effect - predicted | PALB2 S319Y lies within the DNA-binding, and BRCA1-interacting regions of the Palb2 protein (UniProt.org). S319Y results in reduced BRCA1 binding in a mammalian two-hybrid assay and decreased RAD51 foci formation in culture, but demonstrates subcellular localization, recruitment to laser-induced DNA damage sites (PMID: 31586400), and homologous recombination activity similar to wild-type Palb2 (PMID: 31636395, PMID: 31586400), and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore is predicted to have no effect on Palb2 protein function. | |
| PALB2 | P864S | missense | no effect | PALB2 P864S lies within WD repeat 1 of the Palb2 protein (UniProt.org). P864S results in Brca2 binding, Rad51 foci formation, and recruitment to DNA damage sites similar to wild-type Palb2 in cultured cells (PMID: 31586400), retains homology-directed DNA repair activity in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400). | |
| PALB2 | V932M | missense | no effect | PALB2 V932M lies within WD repeat 2 of the Palb2 protein (UniProt.org). V932M results in Brca2 binding, Rad51 foci formation, and recruitment to DNA damage sites similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 33964450). | |
| PALB2 | L939W | missense | unknown | PALB2 L939W lies within WD repeat 2 of the Palb2 protein (UniProt.org). The functional effect of L939W is conflicting, as it has been reported to result in decreased Brca2, Rad51, and Xrcc3 binding in in vitro assays and a modest reduction in homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 24141787), but in another study demonstrates Brca2, Rad51, and Rad51c binding similar to wild-type Palb2 in cultured cells (PMID: 24141787, PMID: 31586400), and homology-directed DNA repair activity similar to wild-type in a reporter assay (PMID: 33964450), and in cultured cells lacking Tp53 (PMID: 27829436, PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | L947F | missense | loss of function | PALB2 L947F lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947F results in reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395), Palb2 protein accumulation in the cytoplasm, and decreased Rad51 foci formation and foci intensity compared to wild-type protein (PMID: 31586400). | |
| PALB2 | L947S | missense | loss of function | PALB2 L947S lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947S confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, Brca2 binding, recruitment to DNA damage sites, and Rad51 foci formation and intensity, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31757951). | |
| PALB2 | S955R | missense | no effect - predicted | PALB2 S955R lies within WD repeat 2 of the Palb2 protein (UniProt.org). S955R results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | I966V | missense | no effect - predicted | PALB2 I966V lies within WD repeat 3 of the Palb2 protein (UniProt.org). I966V results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | G998E | missense | no effect | PALB2 G998E lies within WD repeat 3 of the Palb2 protein (UniProt.org). G998E results in Brca2 binding, Rad51 foci formation, and DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31586400, PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951). | |
| PALB2 | A1017T | missense | no effect - predicted | PALB2 A1017T lies within WD repeat 4 of the Palb2 protein (UniProt.org). A1017T results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | A1025T | missense | no effect | PALB2 A1025T lies within WD repeat 4 of the palb2 protein (UniProt.org). A1025T results in homologous repair activity similar to wild-type Palb2 in culture (PMID: 31636395, PMID: 33964450), BRCA2-binding similar to wild-type in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400). | |
| PALB2 | T1030I | missense | loss of function | PALB2 T1030I lies within WD repeat 4 of the Palb2 protein (UniProt.org). T1030I confers a loss of function to the Palb2 protein as demonstrated by reduced Rad51 and Rad51c binding in in vitro assays (PMID: 24141787), decreased protein stability (PMID: 24141787, PMID: 31757951), reduced Rad51 foci formation, loss of Brca2 binding, and aberrant cytoplasmic localization (PMID: 31586400), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951). | |
| PALB2 | K1041T | missense | no effect - predicted | PALB2 K1041T lies within WD repeat 4 of the Palb2 protein (UniProt.org). K1041T results in BRCA2 binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | G1043A | missense | loss of function - predicted | PALB2 G1043A lies within WD repeat 4 of the Palb2 protein (UniProt.org). G1043A does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), however, results in decreased Brca2 binding, reduced Palb2 recruitment to DNA damage sites, and impaired homology-directed DNA repair activity in cultured cells in another study (PMID: 31586400), and therefore, is predicted to lead to a loss of Palb2 protein function. | |
| PALB2 | S1075G | missense | no effect - predicted | PALB2 S1075G lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1075G results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | S1084L | missense | no effect - predicted | PALB2 S1084L lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1084L results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | I1093T | missense | no effect | PALB2 I1093T lies within WD repeat 5 of the palb2 protein (UniProt.org). I1093T results in homologous repair activity similar to wild-type protein in culture (PMID: 31636395), demonstrates subcellular localization and recruitment to dsDNA damage sites comparable to wild-type Palb2 in culture, results in BRCA2 binding similar to wild-type protein in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400). | |
| PALB2 | V1105A | missense | no effect - predicted | PALB2 V1105A lies within WD repeat 5 of the Palb2 protein (UniProt.org). V1105A results in BRCA2-binding similar to wild-type Palb2 in a mammalian two-hybrid assay and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400), and therefore, is predicted to have no effect on Palb2 protein function. | |
| PALB2 | Q1114H | missense | no effect - predicted | PALB2 Q1114H lies within the RAD51, BRCA2, and POLH-interacting region of the Palb2 protein (UniProt.org). Q1114H results in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), and therefore, is predicted to have no effect on protein function. | |
| PALB2 | L1119P | missense | unknown | PALB2 L1119P lies within WD repeat 6 of the Palb2 protein (UniProt.org). L1119P results in decreased nuclear localization, Brca2 binding, and recruitment to DNA damage sites and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400), however, demonstrates similar Rad51 foci formation and increased Rad51 foci intensity to wild-type (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | W1140G | missense | loss of function - predicted | PALB2 W1140G lies within WD repeat 6 of the Palb2 protein (UniProt.org). W1140G does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), however, results in decreased Brca2 binding, reduced Rad51 foci formation, aberrant cytoplasmic localization, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31586400), and therefore, is predicted to lead to a loss of Palb2 protein function. | |
| PALB2 | L1143P | missense | unknown | PALB2 L1143P lies within WD repeat 6 of the Palb2 protein (UniProt.org). The functional effect of L1143P is conflicting, as it has been reported to result in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395), however, demonstrates decreased Rad51, Rad51c, and Xrcc3 binding in in vitro assays, and reduced Brca2 and Rad51c binding, decreased Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 24141787), and therefore, its effect on Palb2 protein function is unknown. | |
| PALB2 | I1180T | missense | no effect - predicted | PALB2 I1180T lies within WD repeat 7 of the Palb2 protein (UniProt.org). I1180T results in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function. |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PALB2 L1119P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L1119P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 L1119P | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L1119P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 L35P | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L35P were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 L947F | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L947F were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 L947F | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L947F were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 L947S | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 L947S were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 P8L | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 P8L were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 P8L | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 P8L were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 R37H | Advanced Solid Tumor | conflicting | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 R37H were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 R37H | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 R37H were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 T1030I | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 T1030I were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 T1030I | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 T1030I were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 W1140G | osteosarcoma | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, osteosarcoma cells expressing PALB2 W1140G were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
| PALB2 W1140G | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 W1140G were sensitive to treatment with Lynparza (olaparib), demonstrating decreased cell growth in culture (PMID: 31586400). | 31586400 |
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