PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE In 177 patients with NSCLC (who had a median age of 62 years and included 140 men and 91 patients with adenocarcinoma), only high PALB2 mRNA expression was predictive in the progression-free survival Cox regression analysis (hazard ratio = 0.63, 95% confidence interval: 0.42-0.83, p = 0.0080). 30472259 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE In 177 patients with NSCLC (who had a median age of 62 years and included 140 men and 91 patients with adenocarcinoma), only high PALB2 mRNA expression was predictive in the progression-free survival Cox regression analysis (hazard ratio = 0.63, 95% confidence interval: 0.42-0.83, p = 0.0080). 30472259 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 GeneticVariation disease BEFREE PALB2 loss-of-function variants play an important role in breast, pancreatic and possibly, ovarian and gastric cancer susceptibility. 31089269 2019
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		0.010 GeneticVariation disease BEFREE The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. 30681994 2019
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 GeneticVariation disease BEFREE The purpose of this article is to provide a review of principles of genetic testing in prostate cancer and highlight the significance of clinical genetic testing of BRCA1/2 and other genes (CHEK2, HOXB13, PALB2), including Lynch syndrome genes (MLH1, MSH2, MSH6, and PMS2) in men with metastatic prostate cancer. 30681994 2019
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.010 Biomarker disease BEFREE Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. 29625052 2018
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 Biomarker disease BEFREE MDR analysis proposed the exonic variants in MSH6, BRCA2, PALB2 and TP53 genes and intronic variant in RECQL5 genetic region working together during certain phase of DNA repair mechanism for HNC causation. 29747023 2018
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE Interestingly, higher expression of PALB2 was significantly associated with poorer overall survival (<i>P</i> < 0.01) in patients with stage III or nearby lymph node metastasis (N1, N2 or N3). 29321957 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE <i>In vitro</i> studies found that PALB2 may promote the migration and invasion of MDA-MB-231 cells through E-cadherin suppression and NF-κB activation. 29321957 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		0.010 AlteredExpression disease BEFREE High expression of PALB2 predicts poor prognosis in patients with advanced breast cancer. 29321957 2018
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 Biomarker disease BEFREE MDR analysis proposed the exonic variants in MSH6, BRCA2, PALB2 and TP53 genes and intronic variant in RECQL5 genetic region working together during certain phase of DNA repair mechanism for HNC causation. 29747023 2018
CUI: C4721859
Disease: Hereditary Diffuse Gastric Adenocarcinoma
Hereditary Diffuse Gastric Adenocarcinoma 		0.010 GeneticVariation disease BEFREE The results of this study suggest a role for the known cancer predisposition gene PALB2 in families with hereditary diffuse gastric cancer and no detected pathogenic CDH1 variants. 29706558 2018
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		0.010 GeneticVariation disease BEFREE Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2. 29190888 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 GeneticVariation disease BEFREE Frequency of germline PALB2 mutations among women with epithelial ovarian cancer. 27631815 2017
CUI: C2827980
Disease: Stage IA Breast Cancer AJCC v7
Stage IA Breast Cancer AJCC v7 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4520898
Disease: Stage IV Breast Cancer AJCC v6 and v7
Stage IV Breast Cancer AJCC v6 and v7 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4528552
Disease: Anatomic Stage IA Breast Cancer AJCC v8
Anatomic Stage IA Breast Cancer AJCC v8 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4528561
Disease: Anatomic Stage IV Breast Cancer AJCC v8
Anatomic Stage IV Breast Cancer AJCC v8 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4528572
Disease: Prognostic Stage IA Breast Cancer AJCC v8
Prognostic Stage IA Breast Cancer AJCC v8 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4528592
Disease: Prognostic Stage IV Breast Cancer AJCC v8
Prognostic Stage IV Breast Cancer AJCC v8 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C4724023
Disease: stage IA breast cancer
stage IA breast cancer 		0.010 GeneticVariation disease BEFREE In our PALB2 mutation cohort, 2 patients with frameshift mutations led to early onset and rapid progression to stage IV breast cancer in contrast to stage IA breast cancer in 1 patient with a nonsense mutation. 28709830 2017
CUI: C0009946
Disease: Conversion disorder
Conversion disorder 		0.010 PosttranslationalModification group BEFREE DNA was subjected to sodium bisulfite conversion reaction and the CpG island of the PALB2 promoter was analyzed by pyrosequencing. 26526077 2016
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast 		0.010 Biomarker disease BEFREE Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer. 26573693 2016
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum 		0.010 Biomarker disease BEFREE PALB2 and BARD1 are suspected OC genes and together with established OC genes (BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH2, MLH1, PMS2, and MSH6) bring the total number of genes suspected to cause hereditary OC to 11. 26720728 2016