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| Gene Symbol | PALB2 | ||||||||||
| Synonyms | BROVCA5 | FANCN | PNCA3 | ||||||||||
| Gene Description | PALB2, partner and localizer of BRCA2, recruits Brca2 and Rad51 to repair DNA through homologous recombination (PMID: 24998779, PMID: 30638972). PALB2 loss of function mutations have been linked to hereditary breast cancer (PMID: 25135369) and male breast cancer (PMID: 31067289). | ||||||||||
| ACMG Incidental List v3.0: |
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| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PALB2 Y1108fs | nephroblastoma | sensitive | Talazoparib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, a Wilms tumor cell line and xenograft model harboring PALB2 Y1108fs demonstrated a complete response to Talzenna (talazoparib) (PMID: 25263539). | 25263539 |
| PALB2 mutant | pancreatic cancer | predicted - sensitive | Talazoparib | Case Reports/Case Series | Actionable | In a Phase I trial, Talzenna (talazoparib) treatment resulted in an objective response rate of 20.0% (2/10, 2 partial responses) and a clinical benefit rate of 30.0% in patients with pancreatic cancer, including a partial response in one patient harboring a PALB2 mutation (PMID: 28242752; NCT01286987). | 28242752 |
| PALB2 mutant | pancreatic adenocarcinoma | sensitive | Rucaparib | Guideline | Actionable | Rubraca (rucaparib) is included in guidelines as maintenance therapy following prior platinum-based therapy for patients with metastatic pancreatic adenocarcinoma harboring germline PALB2 mutations (NCCN.org). | detail... |
| PALB2 mutant | pancreatic adenocarcinoma | sensitive | Cisplatin + Gemcitabine | Guideline | Actionable | Platinol (cisplatin), in combination with Gemzar (gemcitabine), is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1), and as a subsequent therapy for patients with locally advanced, metastatic, or recurrent diseases (NCCN.org). | detail... |
| PALB2 mutant | pancreatic cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased pancreatic cancer susceptibility (NCCN.org). | detail... |
| PALB2 mutant | uveal melanoma | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (NCCN.org). | detail... |
| PALB2 mutant | prostate cancer | not applicable | N/A | Guideline | Risk Factor | Germline PALB2 mutations are associated with increased risk of developing prostate cancer (NCCN.org). | detail... |
| PALB2 mutant | pancreatic adenocarcinoma | sensitive | Fluorouracil + Irinotecan + Leucovorin + Oxaliplatin | Guideline | Actionable | FOLFIRINOX is included in guidelines as a preferred first-line therapy for patients with locally advanced or metastatic pancreatic adenocarcinoma harboring PALB2 mutations with good performance status (ECOG 0 -1) (NCCN.org). | detail... |
| PALB2 del PALB2 mut | prostate cancer | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a Phase II study (TOPARP-A), a patient with metastatic castration-resistant prostate cancer harboring a frameshift PALB2 mutation together with a heterozygous PALB2 deletion achieved a response to Lynparza (olaparib) that lasted for 39 weeks (PMID: 26510020; NCT01682772). | 26510020 |
| PALB2 inact mut | estrogen-receptor positive breast cancer | sensitive | Talazoparib | Guideline | Actionable | Talzenna (talazoparib) is included in guidelines as second-line therapy for patients with ESR1 (ER)-positive, ERBB2 (HER2)-negative metastatic breast cancer with germline or somatic pathogenic/likely pathogenic PALB2 mutations who have progressed on an endocrine therapy plus CDK4/6 inhibitor (PMID: 34678411; ESMO.org). | 34678411 detail... |
| PALB2 inact mut | Her2-receptor negative breast cancer | predicted - sensitive | Talazoparib | Case Reports/Case Series | Actionable | In a Phase II trial, Talzenna (talazoparib) treatment was well tolerated, and among 12 evaluable ERBB2 (HER2)-negative breast cancer patients with a homologous repair pathway mutation resulted in response in 25% (3/12) of patients, including two patients with germline mutations in PALB2, and resulted in stable disease for >/= 6 months in 3 patients, including one patient with a germline PALB2 mutation (J Clin Oncol 37, no. 15_suppl (May 20, 2019) 3006). | detail... |
| PALB2 inact mut | breast cancer | predicted - sensitive | Olaparib | Phase II | Actionable | In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment resulted in an objective response rate (ORR) of 33% (9/27) and a clinical benefit rate (CBR) at 18 weeks of 50% in patients with metastatic breast cancer harboring germline mutations in homologous recombination-related genes other than BRCA1/2, all responders harbored germline PALB2 inactivating mutations, ORR and CBR in PALB2-mutant patients (n=11) were 82% and 100%, respectively (PMID: 33119476; NCT03344965). | 33119476 |
| PALB2 inact mut | prostate cancer | sensitive | Olaparib | Phase II | Actionable | In a Phase II (TOPARP-B) trial, Lynparza (olaparib) treatment resulted in a composite overall response rate of 57.1% (4/7) and a RECIST objective response rate of 33.3% (2/6) in patients with castration-resistant prostate cancer harboring deleterious PALB2 mutations (PMID: 31806540; NCT01682772). | 31806540 |
| PALB2 inact mut | prostate cancer | sensitive | Olaparib | FDA approved - On Companion Diagnostic | Actionable | In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including PALB2 (PMID: 32343890; NCT02987543). | detail... detail... 32343890 |
| PALB2 inact mut | prostate cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in PALB2 (NCCN.org). | detail... |
| PALB2 inact mut | estrogen-receptor positive breast cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in guidelines as second-line therapy for patients with ESR1 (ER)-positive, ERBB2 (HER2)-negative metastatic breast cancer with germline or somatic pathogenic/likely pathogenic PALB2 mutations who have progressed on an endocrine therapy plus CDK4/6 inhibitor (PMID: 34678411; ESMO.org). | detail... 34678411 |
| PALB2 inact mut | Her2-receptor negative breast cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in the Pan-Asian Guidelines Adaptation (PAGA) as second-line therapy for patients with hormone receptor-positive, ERBB2 (HER2)-negative metastatic breast cancer with germline pathogenic/likely pathogenic PALB2 mutations who have progressed on an endocrine therapy plus CDK4/6 inhibitor (PMID: 37178669; ESMO.org). | 37178669 detail... |
| 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 |
| PALB2 inact mut | pancreatic cancer | predicted - sensitive | Rucaparib | Case Reports/Case Series | Actionable | In a Phase II trial, maintenance Rubraca (rucaparib) resulted in a median progression-free survival (mPFS) of 13.1 months and an objective response rate (ORR) of 41.7% (15/36, 3 complete responses, 12 partial responses) in patients with platinum-sensitive, advanced pancreatic cancer harboring deleterious mutations in BRCA1/2 or PALB2, ORR was 50% (3/6) in patients with PALB2 mutations (PMID: 33970687; NCT03140670). | 33970687 |
| PALB2 inact mut | biliary tract cancer | sensitive | Rucaparib | Guideline | Actionable | Rubraca (rucaparib) is included in guidelines as second or later-line therapy for patients with biliary tract cancer harboring BRCA1/2 mutations (PMID: 36372281; ESMO.org). | detail... 36372281 |
| PALB2 inact mut | prostate cancer | predicted - sensitive | Rucaparib | Case Reports/Case Series | Actionable | In a Phase II trial (TRITON2), 2 of 2 patients with metastatic castrate-resistant prostate cancer harboring deleterious PALB2 alterations demonstrated a PSA response after treatment with Rubraca (rucaparib), with one of those patients demonstrating partial radiographic response that was ongoing 3.9 months, and the other a 47% reduction in tumor volume (PMID: 32086346; NCT02952534). | 32086346 |
| PALB2 inact mut | pancreatic ductal adenocarcinoma | sensitive | Cisplatin + Gemcitabine | Phase II | Actionable | In a Phase II trial, patients with pancreatic ductal adenocarcinoma harboring either a germline BRCA1, BRCA2, or PALB2 inactivating mutation demonstrated a response rate of 65.2% (15/23), a median progression-free survival of 9.7 months, a median overall survival of 16.4 months, and a disease control rate of 78.3% (18/23) when treated with a combination of Gemzar (gemcitabine) and Platinol (cisplatin) (PMID: 31976786). | 31976786 |
| PALB2 inact mut | triple-receptor negative breast cancer | predicted - sensitive | Ceralasertib + Olaparib | Case Reports/Case Series | Actionable | In a Phase II trial (plasmaMATCH), treatment with the combination of Lynparza (olaparib) and Ceralasertib (AZD6738) resulted in limited efficacy in patients with advanced triple-negative breast cancer, with an objective response rate of 17.1% (12/70), including a complete response in a patient with a germline mutation in PALB2 (PMID: 37773077; NCT03182634). | 37773077 |
| PALB2 inact mut | prostate cancer | predicted - sensitive | Abiraterone + Niraparib + Prednisone | Phase III | Actionable | In a Phase III trial (MAGNITUDE), Zejula (niraparib) in combination with Zytiga (abiraterone) and Adasone (prednisone) (AAP) improved radiographic progression-free survival (HR 0.59) compared to placebo and AAP in patients with metastatic castration-resistant prostate cancer harboring inactivating mutations in the homologous recombination repair (HRR)-Fanconi pathway (BRIP1, FANCA, PALB2), with a HR of 0.59 in patients with PALB2 mutations (J Clin Oncol 40, no. 16_suppl (June 01, 2022) 5020; NCT03748641). | detail... |
| PALB2 inact mut | pancreatic ductal adenocarcinoma | no benefit | Cisplatin + Gemcitabine + Veliparib | Phase II | Actionable | In a Phase II trial, the addition of Veliparib (ABT-888) to Gemzar (gemcitabine) and Platinol (cisplatin) in pancreatic ductal adenocarcinoma patients with either a germline BRCA1, BRCA2, or PALB2 inactivating mutation did not improve response rate (RR) compared to Gemzar (gemcitabine) and Platinol (cisplatin) alone, with 74.1% (20/27) vs 65.2% (15/23), P=0.55, and led to similar median progression-free survival, 10.1 vs 9.7 mo, P=0.73, and median overall survival, 15.5 vs 16.4 mo, P=0.6 (PMID: 31976786). | 31976786 |
| PALB2 inact mut | prostate cancer | sensitive | Enzalutamide + Talazoparib | FDA approved | Actionable | In a Phase III trial (TALAPRO-2) that supported FDA approval, Talzenna (talazoparib) plus Xtandi (enzalutamide) improved median radiographic progression-free survival compared to enzalutamide plus placebo (27.9 vs 16.4 mo, HR 0.46, p=0.0003) in patients with metastatic castration-resistant prostate cancer harboring deficient homologous recombination repair genes including PALB2, with an HR of 0.66 (p=0.12) in patients with non-BRCA mutations treated with Talzenna (talazoparib) (PMID: 37285865; NCT03395197). | 37285865 detail... |
| PALB2 inact mut | prostate cancer | sensitive | Enzalutamide + Talazoparib | Guideline | Actionable | Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic PALB2 mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). | detail... |
| PALB2 dec exp | triple-receptor negative breast cancer | sensitive | Cisplatin | Preclinical | Actionable | In a preclinical study, knockdown of PALB2 enhanced growth inhibition by Platinol (cisplatin) in triple-negative breast cancer cell lines in culture (PMID: 25193512). | 25193512 |
| PALB2 dec exp | triple-receptor negative breast cancer | sensitive | Evofosfamide | Preclinical | Actionable | In a preclinical study, knockdown of PALB2 enhanced growth inhibition by Evofosfamide (TH-302) in triple-negative breast cancer cell lines in culture (PMID: 25193512). | 25193512 |
| PALB2 dec exp | triple-receptor negative breast cancer | sensitive | PR-104 | Preclinical | Actionable | In a preclinical study, knockdown of PALB2 enhanced growth inhibition by PR-104 in triple-negative breast cancer cell lines in culture (PMID: 25193512). | 25193512 |
| PALB2 dec exp | triple-receptor negative breast cancer | sensitive | SN30000 | Preclinical | Actionable | In a preclinical study, knockdown of PALB2 enhanced growth inhibition by SN30000 in triple-negative breast cancer cell lines in culture (PMID: 25193512). | 25193512 |
| PALB2 dec exp | triple-receptor negative breast cancer | sensitive | Chlorambucil | Preclinical | Actionable | In a preclinical study, knockdown of PALB2 enhanced growth inhibition by Ambochlorin (chlorambucil) in triple-negative breast cancer cell lines in culture (PMID: 25193512). | 25193512 |
| 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 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 del | uterus leiomyosarcoma | predicted - sensitive | Olaparib + Temozolomide | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) and Temodar (temozolomide) combination treatment resulted in stable disease and progression-free survival lasting 381 days in a patient with advanced uterine leiomyosarcoma harboring a homozygous deletion of PALB2 (PMID: 37467452). | 37467452 |
| PALB2 del | ovarian cancer | sensitive | AZD5305 | Preclinical - Cell culture | Actionable | In a preclinical study, AZD5305 inhibited colony formation in an ovarian cancer cell line with PALB2 deletion in culture (PMID: 35929986). | 35929986 |
| PALB2 W1038* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 W1038* in culture (PMID: 31757951). | 31757951 |
| 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 L35P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L35P were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
| PALB2 L35P PALB2 Y551* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 L35P sensitized transformed human cells harboring PALB2 Y551* to Lynparza (olaparib) treatment in culture (PMID: 35853885). | 35853885 |
| PALB2 I944N | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 I944N were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
| PALB2 L24S | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L24S were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
| 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 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 | Advanced Solid Tumor | conflicting | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 R37H did not confer sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). | 33811135 |
| PALB2 L1070P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 L1070P were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
| PALB2 Q988* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Q988* in culture (PMID: 31757951). | 31757951 |
| 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 Y551* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y551* in culture (PMID: 31757951). | 31757951 |
| PALB2 Y551* PALB2 S859* | Her2-receptor negative breast cancer | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with metastatic hormone receptor (ESR1/PGR)-positive, ERBB2 (HER2)-negative breast cancer harboring PALB2 Y551* and S859* who progressed on prior therapies achieved a partial response to Lynparza (olaparib) treatment after 3 months and a 70% decrease in tumor burden at 6 months (PMID: 32194151). | 32194151 |
| PALB2 L24F PALB2 Y551* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 L24F sensitized transformed human cells harboring PALB2 Y551* to Lynparza (olaparib) treatment in culture (PMID: 35853885). | 35853885 |
| PALB2 L35F PALB2 Y551* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 L35F sensitized transformed human cells harboring PALB2 Y551* to Lynparza (olaparib) treatment in culture (PMID: 35853885). | 35853885 |
| PALB2 K16M PALB2 Y551* | Advanced Solid Tumor | no benefit | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 K16M did not sensitize transformed human cells harboring PALB2 Y551* to Lynparza (olaparib) treatment in culture (PMID: 35853885). | 35853885 |
| PALB2 Y1183* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y1183* in culture (PMID: 31757951). | 31757951 |
| PALB2 S172fs | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 S172fs in culture (PMID: 31757951). | 31757951 |
| PALB2 P1009Lfs*6 | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 P1009Lfs*6 in culture (PMID: 31757951). | 31757951 |
| PALB2 C882fs | Advanced Solid Tumor | predicted - sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 C882fs in culture (PMID: 31757951). | 31757951 |
| PALB2 E669fs | Advanced Solid Tumor | predicted - sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 E669fs in culture (PMID: 31757951). | 31757951 |
| PALB2 Y409* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y409* in culture (PMID: 31757951). | 31757951 |
| PALB2 E230* | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 E230* in culture (PMID: 31757951). | 31757951 |
| 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 |
| PALB2 Q60Rfs*7 | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Q60Rfs*7 in culture (PMID: 31757951). | 31757951 |
| 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 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 A1025R | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing PALB2 A1025R were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased cell survival (PMID: 31636395). | 31636395 |
| 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 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 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 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 K346Tfs*13 | pancreatic ductal adenocarcinoma | predicted - sensitive | Fluorouracil + Oxaliplatin + Veliparib | Case Reports/Case Series | Actionable | In a Phase I/II trial, Veliparib (ABT-888) in combination with Adrucil (fluorouracil) and Eloxatin (oxaliplatin) resulted in a partial response in a patient with metastatic pancreatic ductal adenocarcinoma harboring germline PALB2 K346Tfs*13 (reported as c.1037_1041delAAGAA) (PMID: 32669374; NCT01489865). | 32669374 |
| PALB2 A38V | Advanced Solid Tumor | no benefit | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 A38V did not confer sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). | 33811135 |
| PALB2 G1043V | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 G1043V conferred sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). | 33811135 |
| PALB2 L1027R | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, expressing PALB2 L1027R conferred sensitivity to Lynparza (olaparib)-induced growth inhibition in TP53 and PALB2 double knock-out mouse embryonic stem cells in culture (PMID: 33811135). | 33811135 |
| PALB2 del exon11 | endometrial serous adenocarcinoma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in a durable response lasting 23 months in a patient with recurrent serous endometrial carcinoma harboring a germline deletion of PALB2 exon 11 (PMID: 34781271). | 34781271 |
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