|
melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found a rare nonsense variant in the BRCA2 gene (rs11571833), previously associated with cancer susceptibility but not with melanoma, which showed weak association with melanoma susceptibility in the Swedish population.
|
27074266 |
2016 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases.
|
30672594 |
2019 |
|
Squamous cell carcinoma of esophagus
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p. Lys3326X mutation in BRCA2 (also known as Fanconi anemia gene FANCD1) was present in 27 of 746 ESCC cases and in 16 of 1,373 controls (OR = 3.38, 95% CI = 1.97-6.91, P = 0.0002).
|
21279724 |
2011 |
|
Malignant neoplasm of prostate
|
|
0.010 |
GeneticVariation
|
BEFREE |
Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant.
|
26586665 |
2016 |
|
Childhood Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM).
|
26264438 |
2016 |
|
Pancreatic carcinoma, familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
One K3326X carrier with familial pancreatic cancer</span> carried an alteration (IVS 16-2A>G) suspected to be deleterious.
|
15806175 |
2005 |
|
Malignant Squamous Cell Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
|
29767749 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population.
|
29767749 |
2018 |
|
Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM).
|
26264438 |
2016 |
|
Breast Cancer, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.
|
26455428 |
2015 |
|
Squamous cell carcinoma of skin
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report for the first time an association between K3326* and small cell lung cancer (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.35 to 3.16) and squamous cell carcinoma of the skin (OR = 1.69, 95% CI = 1.26 to 2.26).
|
29767749 |
2018 |
|
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
|
|
0.010 |
GeneticVariation
|
BEFREE |
We additionally note an increased prevalence of the BRCA2 K3326X polymorphism in EFT patient samples (7.3%) compared to population data (OR 7.1, p = 0.006).
|
25010205 |
2014 |
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although no single variant showed an association which was statistically significant at the genome-wide threshold a number represented promising associations - BRCA2:c.9976A>T, p.(Lys3326Ter), which has been shown to influence breast and lung cancer risk (odds ratio (OR)=2.3, P=4.00 × 10(-4) for glioblastoma (GBM)) and IDH2:c.782G>A, p.(Arg261His) (OR=3.21, P=7.67 × 10(-3), for non-GBM).
|
26264438 |
2016 |
|
Carcinoma of lung
|
|
0.750 |
GeneticVariation
|
GWASCAT |
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
|
28604730 |
2017 |
|
Carcinoma of lung
|
|
0.750 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
Malignant neoplasm of lung
|
|
0.750 |
GeneticVariation
|
GWASDB |
We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).
|
24880342 |
2014 |
|
Carcinoma of lung
|
|
0.750 |
GeneticVariation
|
GWASCAT |
We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)).
|
24880342 |
2014 |
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
GWASDB |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
GWASCAT |
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.
|
25751625 |
2015 |
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
GWASCAT |
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
|
23535729 |
2013 |
|
Squamous cell carcinoma of lung
|
|
0.720 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
ovarian neoplasm
|
|
0.720 |
GeneticVariation
|
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
Squamous cell carcinoma
|
|
0.720 |
GeneticVariation
|
GWASCAT |
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
|
24880342 |
2014 |