PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Malignant neoplasm of male breast ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 GeneticVariation disease BEFREE Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. 31336362 2019
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 GeneticVariation disease BEFREE Targeted PALB2 sequencing detected the c.1984A>T nonsense mutation in 1 of the 48 BRCA1/2 mutation-negative MBC cases. 27648926 2017
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 GeneticVariation disease BEFREE Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10<sup>-16</sup>], CHEK2 (OR = 3.7; p = 6.24 × 10<sup>-24</sup>), and PALB2 (OR = 6.6, p = 0.01) were associated with significantly increased risks of MBC. 28008555 2017
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 Biomarker disease BEFREE Our findings indicate that PALB2 could be added to the list of breast cancer susceptibility genes also in families with MBC cases. 25529982 2015
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 GeneticVariation disease BEFREE Thus, our study does not support an enrichment of PALB2 germline mutations in the subset of breast cancer families with male breast cancer cases. 22052327 2012
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.060 GeneticVariation disease BEFREE Our objectives are to determine the frequency of pathogenic mutations in BRCA2 and PALB2 in MBC cases and to investigate the correlations between mutation status and cancer phenotypes. 20927582 2011