Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
This study aims to characterize a novel PALB2 exon 13 duplication in a hereditary breast and ovarian cancer family.
|
27757719 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
|
21409391 |
2011 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been attributed to common ancestors.
|
25925845 |
2015 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer.
|
27783279 |
2017 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis.
|
30309218 |
2019 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
A PALB2 mutation associated with high risk of breast cancer.
|
21182766 |
2010 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
PALB2 mutations in familial breast and pancreatic cancer.
|
21365267 |
2011 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Integrated analysis of germline and somatic variants in ovarian cancer.
|
24448499 |
2014 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
ORPHANET |
Hereditary breast and ovarian cancer susceptibility genes (review).
|
23779253 |
2013 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Some of these proteins also confer susceptibility to hereditary breast and ovarian cancer (HBOC), since FANCD1 is the BRCA2 breast cancer susceptibility gene, and FANCN/PALB2 and FANCJ/BRIP1 explain 2% of non-BRCA1/2 HBOC families.
|
19536649 |
2009 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies.
|
26250988 |
2015 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
|
27067391 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
|
24556926 |
2014 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
|
19264984 |
2009 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
|
24206657 |
2013 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
|
27624329 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
|
23448497 |
2013 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
A PALB2 germline mutation associated with hereditary breast cancer in Italy.
|
19763884 |
2010 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Although PALB2 truncating mutations are rarely identified, segregation analysis and early onset cancer suggest a significant contribution to HBOC susceptibility in the Spanish population.
|
30521987 |
2019 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.
|
28281021 |
2017 |
Hereditary Breast and Ovarian Cancer Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
KT-10 possesses a truncating mutation in PALB2 analogous to PALB2 mutations associated with hereditary breast and ovarian cancer that abrogate homologous recombination (HR) repair.
|
25263539 |
2015 |