present in Gene: PALB2
present in Chromosome: 16
Position on Chromosome: 23621362
Alleles of this Variant: C/T
rs180177132 in
PALB2 gene and
Breast Carcinoma
PMID 23448497 2013 About 1.5% (95% CI 0.6to 2.4) of Australasian multiple-case breast cancer families attending clinics are segregating protein-truncating mutations in PALB2, most being PALB2 c.3113G>A, p.Trp1038*.
PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
PMID 21182766 2010 Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
rs180177132 in
PALB2 gene and
Hereditary Breast and Ovarian Cancer Syndrome
PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.
PMID 21182766 2010 A PALB2 mutation associated with high risk of breast cancer.
PMID 26534844 2016 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.
PMID 23448497 2013 Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
PMID 24206657 2013 Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
rs180177132 in
PALB2 gene and
Malignant neoplasm of breast
PMID 21182766 2010 Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
PMID 21409391 2011 BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.
PMID 25575445 2015 Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
PMID 26283626 2015 Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
PMID 23471749 2013 Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations.
PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
PMID 24415441 2014 Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
rs180177132 in
PALB2 gene and
Neoplastic Syndromes, Hereditary
PMID 17200668 2007 PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.
PMID 28158555 2017 Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.
PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 26283626 2015 Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
PMID 21409391 2011 BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
PMID 19264984 2009 Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.
PMID 25575445 2015 Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
PMID 25225577 2014 Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.
PMID 21182766 2010 A PALB2 mutation associated with high risk of breast cancer.
PMID 21285249 2011 Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
PMID 18302019 2009 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
PMID 22241545 2012 Rare germline mutations in PALB2 and breast cancer risk: a population-based study.
PMID 25099575 2014 Breast-cancer risk in families with mutations in PALB2.
PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
PMID 23471749 2013 The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
PMID 23448497 2013 Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.