Gene

PALB2

partner and localizer of BRCA2

Explore in graph →CI-GENE-00018832HGNC:26144 ENSG00000083093 NCBI 79728 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (12)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–12 of 12 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
BRCA1 Mutation + BRCA2 Mutation + PALB2 MutationBRCA2 BRCA1 PALB21
Rucaparib	Pancreatic Adenocarcinoma	Predictive	B

Cohorts

Alteration frequency by cohort (103)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved103 cohort rows (showing 3, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Gastrointestinal Stromal Tumors (MSK, Clin Cancer Res 2023) gist_msk_2023	Gastrointestinal Stromal Tumor	Ssm

Literature

Linked publications (4)

25 per page, newest first.

pubmedPublishedShowing 1–4 of 4 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Olaparib for Metastatic Castration-Resistant Prostate Cancer.
· N Engl J Med · 2020 · PMID 32343890 · validated civic_curation pubmed
DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer.
· N Engl J Med · 2015 · PMID 26510020 · validated civic_curation pubmed
Penetrance analysis of the PALB2 c.1592delT founder mutation.
· Clin Cancer Res · 2008 · PMID 18628482 · validated civic_curation pubmed
Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer.
· Mol Cancer Ther · 2011 · PMID 21135251 · validated civic_curation pubmed

PALB2 Biallelic Inactivation2
Mitomycin	Malignant Pancreatic Neoplasm	Predictive	C	Supports Sensitivity Response	4	accepted	EID1305 In a patient with gemcitabine-refractory pancreatic cancer, a tumor-derived xenograft was found to be responsive to Mitomycin C. After disease progression, the patient was started on a regimen of mito… (full text at CIViC) PMID 21135251 · Villarroel et al., 2011 · Open in CIViC	civic
Olaparib	Malignant Prostate Neoplasm	Predictive	C	Supports Sensitivity Response	3	accepted	EID1963 From 14 prostate cancer patients (88%) who had a response to olaparib, 7 patients had BRCA2 loss (4 with biallelic somatic loss, and 3 with germline mutations), 4 of 5 with had ATM aberrations and one… (full text at CIViC) PMID 26510020 · Mateo et al., 2015 · Open in CIViC	civic

PALB2 Biallelic Inactivation2

Mitomycin

Malignant Pancreatic Neoplasm

Predictive

Supports Sensitivity Response

accepted

EID1305

In a patient with gemcitabine-refractory pancreatic cancer, a tumor-derived xenograft was found to be responsive to Mitomycin C. After disease progression, the patient was started on a regimen of mito… (full text at CIViC)

PMID 21135251 · Villarroel et al., 2011 · Open in CIViC

civic

Olaparib

Malignant Prostate Neoplasm

Predictive

Supports Sensitivity Response

accepted

EID1963

From 14 prostate cancer patients (88%) who had a response to olaparib, 7 patients had BRCA2 loss (4 with biallelic somatic loss, and 3 with germline mutations), 4 of 5 with had ATM aberrations and one… (full text at CIViC)

PMID 26510020 · Mateo et al., 2015 · Open in CIViC

civic

PALB2 L531FS*301
(diagnostic)	Malignant Breast Neoplasm	Diagnostic	B	Supports Positive	3	accepted	EID1318 Study explored the known PALB2 variant c.1592delT (p.L531C) in the context of breast cancer. The study found that among an augmented cohort of breast cancer patients with the variant, there was a haza… (full text at CIViC) PMID 18628482 · Erkko et al., 2008 · Open in CIViC	civic

PALB2 L531FS*301

(diagnostic)

Malignant Breast Neoplasm

Diagnostic

Supports Positive

accepted

EID1318

Study explored the known PALB2 variant c.1592delT (p.L531C) in the context of breast cancer. The study found that among an augmented cohort of breast cancer patients with the variant, there was a haza… (full text at CIViC)

PMID 18628482 · Erkko et al., 2008 · Open in CIViC

civic

PALB2 Mutation6
(prognostic)	Malignant Breast Neoplasm	Prognostic	C	Supports Poor Outcome	2	submitted	EID9550 Multi-gene cancer predisposition panel testing of a 44-year-old patient diagnosed with rectal cancer revealed a pathogenic PALB2 c.2509G>T variant. This patient had a family history of breast cancer a… (full text at CIViC) PMID 26270727 · Desmond et al., 2015 · Open in CIViC	civic
Olaparib	Castration-Resistant Prostate Carcinoma	Predictive	A	Supports Sensitivity Response	4	accepted	EID8504 This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC	civic
〃	Malignant Prostate Neoplasm	Predictive	B	Supports Sensitivity Response	3	submitted	EID7474 In a phase 2 trial, patients with metastatic castration-resistant prostate cancer harboring DNA damage repair (DDR) gene aberrations were treated with olaparib. In gene testing, samples from tumor tis… (full text at CIViC) Open in CIViC	civic
Rucaparib	Malignant Breast Neoplasm	Predictive	B	Supports Sensitivity Response	3	submitted	EID7460 In a phase2 trial, patients with breast cancer harboring mutations in homologous recombination pathway genes other than BRCA1/2 were treated with olaparib. Among 6 patients with breast cancer harbori… (full text at CIViC) Open in CIViC	civic
〃	Malignant Pancreatic Neoplasm	Predictive	B	Supports Sensitivity Response	2	submitted	EID9294 For this single-arm phase II trial patients with locally advanced or metastatic pancreatic cancer (neuroendocrine excluded); and had a confirmed pathogenic or likely pathogenic germline (g) or somatic… (full text at CIViC) PMID 33970687 · Reiss et al., 2021 · Open in CIViC	civic
Talazoparib	Pancreatic Ductal Adenocarcinoma	Predictive	C	Supports Sensitivity Response	3	submitted	EID10835 A patient with pancreatic ductal adenocarcinoma (PDAC) and a somatic PALB2 mutation (NM_024675.4: c.3350+1G>T) experienced disease progression after 10 cycles of FOFIRINOX and 2 cycles of gemcitabine.… (full text at CIViC) PMID 36119518 · Kachmazov et al., 2022 · Open in CIViC	civic

PALB2 Mutation6

(prognostic)

Malignant Breast Neoplasm

Prognostic

Supports Poor Outcome

submitted

EID9550

Multi-gene cancer predisposition panel testing of a 44-year-old patient diagnosed with rectal cancer revealed a pathogenic PALB2 c.2509G>T variant. This patient had a family history of breast cancer a… (full text at CIViC)

PMID 26270727 · Desmond et al., 2015 · Open in CIViC

civic

Olaparib

Castration-Resistant Prostate Carcinoma

Predictive

Supports Sensitivity Response

accepted

EID8504

This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC)

PMID 32343890 · de Bono et al., 2020 · Open in CIViC

civic

〃

Malignant Prostate Neoplasm

Predictive

Supports Sensitivity Response

submitted

EID7474

In a phase 2 trial, patients with metastatic castration-resistant prostate cancer harboring DNA damage repair (DDR) gene aberrations were treated with olaparib. In gene testing, samples from tumor tis… (full text at CIViC)

Open in CIViC

civic

Rucaparib

Malignant Breast Neoplasm

Predictive

Supports Sensitivity Response

submitted

EID7460

In a phase2 trial, patients with breast cancer harboring mutations in homologous recombination pathway genes other than BRCA1/2 were treated with olaparib. Among 6 patients with breast cancer harbori… (full text at CIViC)

Open in CIViC

civic

〃

Malignant Pancreatic Neoplasm

Predictive

Supports Sensitivity Response

submitted

EID9294

For this single-arm phase II trial patients with locally advanced or metastatic pancreatic cancer (neuroendocrine excluded); and had a confirmed pathogenic or likely pathogenic germline (g) or somatic… (full text at CIViC)

PMID 33970687 · Reiss et al., 2021 · Open in CIViC

civic

Talazoparib

Pancreatic Ductal Adenocarcinoma

Predictive

Supports Sensitivity Response

submitted

EID10835

A patient with pancreatic ductal adenocarcinoma (PDAC) and a somatic PALB2 mutation (NM_024675.4: c.3350+1G>T) experienced disease progression after 10 cycles of FOFIRINOX and 2 cycles of gemcitabine.… (full text at CIViC)

PMID 36119518 · Kachmazov et al., 2022 · Open in CIViC

civic

PALB2 Oncogenic Mutations (loss of function alterations)1
Talazoparib	HER2 Negative Breast CancerUNRESOLVED	Predictive	B	Supports Sensitivity Response	3	submitted	EID10856 In a Phase II trial, the efficacy of talazoparib was evaluated in patients with pretreated advanced HER2-negative breast cancer or other solid tumors with mutations in homologous recombination pathway… (full text at CIViC) PMID 36253484 · Gruber et al., 2022 · Open in CIViC	civic

PALB2 Oncogenic Mutations (loss of function alterations)1

Talazoparib

HER2 Negative Breast CancerUNRESOLVED

Predictive

Supports Sensitivity Response

submitted

EID10856

In a Phase II trial, the efficacy of talazoparib was evaluated in patients with pretreated advanced HER2-negative breast cancer or other solid tumors with mutations in homologous recombination pathway… (full text at CIViC)

PMID 36253484 · Gruber et al., 2022 · Open in CIViC

civic

PALB2 R414X1
(prognostic)	Malignant Breast Neoplasm	Prognostic	C	Supports Poor Outcome	2	submitted	EID9581 Multi-gene cancer predisposition panel testing of a 51 year old patient diagnosed with breast cancer revealed a pathogenic PALB2 c.1240C>T, p.R414X variant. This patient had a family history of cancer… (full text at CIViC) PMID 26270727 · Desmond et al., 2015 · Open in CIViC	civic

PALB2 R414X1

(prognostic)

Malignant Breast Neoplasm

Prognostic

Supports Poor Outcome

submitted

EID9581

Multi-gene cancer predisposition panel testing of a 51 year old patient diagnosed with breast cancer revealed a pathogenic PALB2 c.1240C>T, p.R414X variant. This patient had a family history of cancer… (full text at CIViC)

PMID 26270727 · Desmond et al., 2015 · Open in CIViC

civic