Property Summary

NCBI Gene PubMed Count 135
Grant Count 46
R01 Count 27
Funding $4,216,740.68
PubMed Score 149.35
PubTator Score 170.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
psoriasis 1.100 0.000
adrenocortical carcinoma 1.236 0.000
intraductal papillary-mucinous adenoma (... 1.800 0.001
lung cancer 1.500 0.000
group 3 medulloblastoma 1.400 0.001

 GO Function (1)

 GO Component (1)

Gene RIF (141)

PMID Text
26990772 Although patient cells were unable to form Rad51 foci following exposure to either DNA damaging agent, U2OS cells, in which the mutant PALB2 with in frame skip of exon 6 was induced, did show recruitment of Rad51 to foci following damage.
26645143 a foundation for the formation and bioactivity of the G-quadruplex in the promoter region of PALB2 gene
26577449 The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients.
26564480 PALB2 mutations make a small contribution to the heritable breast cancer susceptibility in French population.
26489409 PALB2 mutations account for a small, but not negligible, proportion of patients with hereditary predisposition to breast cancer in the Xinjing region of China.
26283626 The truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles.
26219241 PALB2 Mutation is associated with Breast Cancer.
25959805 Women with a PALB2 mutation face an increased risk of breast cancer and might be at a higher risk of death from breast cancer compared with non-carriers.
25833210 Two novel heterozygous mutations predicted to alter the function of PALB2 were identified (c.2014G>C, p.E672Q and c.2993G>A, p.G998E). Notably, both of these mutations co-existed in BRCA1 and BRCA2 families
25794774 Truncating PALB2 mutations were detected in families with breast cancer negative for which a BRCA1 or BRCA2 mutation has not been found.
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AA Sequence

MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQQDLSPQLKHS      1 - 70
EPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQRTDDTQEHFPHRVSDPSGEQK     71 - 140
QKLPSRRKKQQKRTFISQERDCVFGTDSLRLSGKRLKEQEEISSKNPARSPVTEIRTHLLSLKSELPDSP    141 - 210
EPVTEINEDSVLIPPTAQPEKGVDTFLRRPNFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTHDLKN    211 - 280
IRFTSPVSLEAQGKKMTVSTDNLLVNKAISKSGQLPTSSNLEANISCSLNELTYNNLPANENQNLKEQNQ    281 - 350
TEKSLKSPSDTLDGRNENLQESEILSQPKSLSLEATSPLSAEKHSCTVPEGLLFPAEYYVRTTRSMSNCQ    351 - 420
RKVAVEAVIQSHLDVKKKGFKNKNKDASKNLNLSNEETDQSEIRMSGTCTGQPSSRTSQKLLSLTKVSSP    421 - 490
AGPTEDNDLSRKAVAQAPGRRYTGKRKSACTPASDHCEPLLPTSSLSIVNRSKEEVTSHKYQHEKLFIQV    491 - 560
KGKKSRHQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSLKQLLSFLSITDFQLPDEDFGPLKLEKVKSC    561 - 630
SEKPVEPFESKMFGERHLKEGSCIFPEELSPKRMDTEMEDLEEDLIVLPGKSHPKRPNSQSQHTKTGLSS    631 - 700
SILLYTPLNTVAPDDNDRPTTDMCSPAFPILGTTPAFGPQGSYEKASTEVAGRTCCTPQLAHLKDSVCLA    701 - 770
SDTKQFDSSGSPAKPHTTLQVSGRQGQPTCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTE    771 - 840
TAELPASDSINPGNLQLVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKALDAWQWEKLY    841 - 910
TWHFAEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVLLKSGNIKAVLGLTKRRLVSS    911 - 980
SGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQGMQEALLGTTIMNNIVIWNLKTGQLLKKMH    981 - 1050
IDDSYQASVCHKAYSEMGLLFIVLSHPCAKESESLRSPVFQLIVINPKTTLSVGVMLYCLPPGQAGRFLE   1051 - 1120
GDVKDHCAAAILTSGTIAIWDLLLGQCTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS       1121 - 1186
//

Text Mined References (143)

PMID Year Title
26990772 2016 A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.
26645143 2016 Investigation on the formation, conversion and bioactivity of a G-quadruplex structure in the PALB2 gene.
26577449 2015 BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
26564480 2015 Mutation analysis of PALB2 gene in French breast cancer families.
26489409 2015 PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.
26323318 2015 NUCKS1 is a novel RAD51AP1 paralog important for homologous recombination and genome stability.
26283626 2015 Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
26219241 2015 Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
25959805 2015 Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis.
25833210 2015 Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.
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