rs118203998, PALB2

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 20927582 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. 20927582 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR PALB2 mutations in German and Russian patients with bilateral breast cancer. 21165770 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. 19584259 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Structural basis for recruitment of BRCA2 by PALB2. 19609323 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Structural basis for recruitment of BRCA2 by PALB2. 19609323 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. 19584259 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 17200668 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.700 CausalMutation CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 17200668 2007
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
0.700 CausalMutation CLINVAR
BREAST CANCER, SUSCEPTIBILITY TO
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 GeneticVariation CLINVAR
Esophageal atresia with or without tracheoesophageal fistula
0.700 CausalMutation CLINVAR
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.700 CausalMutation CLINVAR
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.700 CausalMutation CLINVAR
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
0.700 CausalMutation CLINVAR
FANCONI ANEMIA, COMPLEMENTATION GROUP N
0.700 CausalMutation CLINVAR
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE Here we report a rare known deleterious PALB2 mutation (rs118203998) causing a premature truncation of the protein (p.Y1183X) in an individual who had developed four different cancer types, including melanoma. 24949998 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE Here we report a rare known deleterious PALB2 mutation (rs118203998) causing a premature truncation of the protein (p.Y1183X) in an individual who had developed four different cancer types, including melanoma. 24949998 2014
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE Here we report a rare known deleterious PALB2 mutation (rs118203998) causing a premature truncation of the protein (p.Y1183X) in an individual who had developed four different cancer types, including melanoma. 24949998 2014