PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE Based on highly similar founder variant spectra of the <i>BRCA1</i> in Poland and Latvia, we decided to test the frequency of other common variants of moderate breast cancer risk - c.509_510delGA (rs515726124) and c.172_175delTTGT (rs180177143) of the <i>PALB2</i> gene and c.1667_1667+3delAGTA variant of the <i>RECQL</i> gene in a breast cancer case-control series from Latvia to better understand the role of genes in susceptibility to breast cancer and their clinical significance. 31312277 2019
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE Targeted-sequencing identified two frameshift deletions: PALB2:c.509_510del; p.R170Ifs in three women affected with breast cancer and PALB2:c.172_175del;p.Q60Rfs in one woman affected with ovarian cancer. 29052111 2018
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		G 0.720 CausalMutation CLINVAR The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. 24136930 2013
dbSNP: rs180177143
rs180177143
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		G 0.720 GeneticVariation CLINVAR