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: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines. 23341105 2013
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE We also identified a PALB2 p.</span>Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52. 23302520 2013
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR We also identified a PALB2 p.Q775X carrier who had papillary serous ovarian cystadenocarcinoma at age 58 among the 238 serous subtype ovarian cancer cases investigated, who also had breast cancer at age 52. 23302520 2013
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.720 GeneticVariation BEFREE One c.9004G>A carrier also harbored the PALB2 c.2323C>T (Q775X) mutation found to recur in French Canadian breast cancer cases. 21947752 2012
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR One c.9004G>A carrier also harbored the PALB2 c.2323C>T (Q775X) mutation found to recur in French Canadian breast cancer cases. 21947752 2012
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560 2009
dbSNP: rs180177111
rs180177111
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		A 0.720 CausalMutation CLINVAR Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. 18053174 2007