|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Enrichment of pathogenic variants were identified in 4 non-BRCA genes associated with breast cancer risk: ATM (odds ratio [OR], 2.97; 95% CI, 1.67-5.68), CHEK2 (OR, 2.19; 95% CI, 1.40-3.56), PALB2 (OR, 5.53; 95% CI, 2.24-17.65), and MSH6 (OR, 2.59; 95% CI, 1.35-5.44).
|
30128536 |
2019 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Integrated analysis of germline and somatic variants in ovarian cancer.
|
24448499 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA from 1054 BRCA-mutation-negative Hispanic women with hereditary BC (BC diagnosed at age <51 years, bilateral BC, breast and ovarian cancer, or BC diagnosed at ages 51-70 years with ≥2 first-degree or second-degree relatives who had BC diagnosed at age <70 years), 312 local controls, and 887 multiethnic cohort controls was sequenced and analyzed for 12 known and suspected, high-penetrance and moderate-penetrance cancer susceptibility genes (ataxia telangiectasia mutated [ATM], breast cancer 1 interacting protein C-terminal helicase 1 [BRIP1], cadherin 1 [CDH1], checkpoint kinase 2 [CHEK2], nibrin [NBN], neurofibromatosis type 1 [NF1], partner and localizer of BRCA2 [PALB2], phosphatase and tensin homolog [PTEN], RAD51 paralog 3 [RAD51C], RAD51D, serine/threonine kinase 11 [STK11], and TP53).
|
31206626 |
2019 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
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 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk.
|
23787919 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The youngest affected woman, not known to carry a mutation in BRCA1 or BRCA2, from 747 multiple-case breast cancer families participating in kConFab were selected for PALB2 mutation screening.
|
23448497 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
|
17200671 |
2007 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.
|
24136930 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The contribution of founder mutations to early-onset breast cancer in French-Canadian women.
|
19863560 |
2009 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline loss-of-function mutations in PALB2 lead to increased breast cancer risk.
|
28825143 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
|
28678401 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our findings demonstrate that PALB2 does undergo bi-allelic inactivation in the majority of breast cancers from PALB2 germline mutation carriers.
|
29431189 |
2018 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
|
28319063 |
2017 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PALB2 have been identified in breast cancer families worldwide, and recent studies have shown that PALB2 also interacts with BRCA1.
|
20858716 |
2010 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Integrated analysis of germline and somatic variants in ovarian cancer.
|
24448499 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.
|
20153123 |
2010 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the contribution of PALB2 germline mutations in 122 Asian women with breast cancer, all of whom had significant family history of breast and other cancers.
|
23977390 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
|
29922827 |
2018 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in PALB2 accounts for up to 4% of breast cancer patients in Argentina.
|
31446535 |
2019 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, among the genes recently associated with an increased susceptibility to breast cancer, four are Fanconi Anemia (FA) genes: FANCD1/BRCA2, FANCJ/BACH1/BRIP1, FANCN/PALB2 and FANCO/RAD51C.
|
23021409 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
|
26898890 |
2016 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2, including checkpoint kinase 2 (CHEK2) (11.7%), ataxia telangiectasia mutated (ATM; ATM serine/threonine kinase) (9.7%), and partner and localizer of BRCA2 (PALB2) (9.3%).
|
28085182 |
2017 |