rs118203998, PALB2

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. 26641009 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. 27356891 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. 26641009 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. 26296701 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. 26283626 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. 26283626 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer. 24415441 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Assessment of PALB2 as a candidate melanoma susceptibility gene. 24949998 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Rare germline mutations in PALB2 and breast cancer risk: a population-based study. 22241545 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011