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ANOPHTHALMIA AND PULMONARY HYPOPLASIA
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|
0.010 |
GeneticVariation
|
BEFREE |
K3326X and I157T were associated with increased risk of developing sporadic PDAC (odds ratio (OR<sub>dom</sub> ) = 1.78, 95% confidence interval (CI) = 1.26-2.52, p = 1.19 × 10<sup>-3</sup> and OR<sub>dom</sub> = 1.74, 95% CI = 1.15-2.63, p = 8.57 × 10<sup>-3</sup> , respectively).
|
30672594 |
2019 |
|
Pancreatic Ductal Adenocarcinoma
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|
0.010 |
GeneticVariation
|
BEFREE |
Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma.
|
30672594 |
2019 |
|
Familial (FPAH)
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|
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 |
|
Malignant Squamous Cell Neoplasm
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|
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
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|
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 |
|
Squamous cell carcinoma of skin
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|
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 |
|
Glioblastoma Multiforme
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|
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 |
|
melanoma
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|
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 |
|
Malignant neoplasm of prostate
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|
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
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|
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 |
|
Glioblastoma
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|
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 |
|
Adult Glioblastoma
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|
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
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|
0.010 |
GeneticVariation
|
BEFREE |
Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context.
|
26455428 |
2015 |
|
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 |
|
Squamous cell carcinoma of esophagus
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|
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 |
|
Pancreatic carcinoma, familial
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|
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 neoplasm of ovary
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer.
|
29767749 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
|
0.020 |
GeneticVariation
|
BEFREE |
However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer.
|
29767749 |
2018 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
The presence of the second K3326X variant in our case induces a phenotype characterized by early onset of the neoplasia in a manner similar to the other cases of double heterozygosity previously described.
|
29346284 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
|
0.020 |
GeneticVariation
|
BEFREE |
The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer</span> (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)).
|
26586665 |
2016 |
|
Malignant neoplasm of ovary
|
|
0.020 |
GeneticVariation
|
BEFREE |
The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10(-) (6)) and invasive ovarian cancer</span> (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10(-3)).
|
26586665 |
2016 |
|
Neoplasms
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|
0.020 |
GeneticVariation
|
BEFREE |
We have noticed multiple co-occurrences of the BRCA2 c.9976A>T variant with the pathogenic BRCA2c.6275_6276delTT frameshift mutation p.(Leu2092ProfsTer7) and using a cohort study have assessed if this might account for these tumour risk associations.
|
26041759 |
2015 |
|
Primary malignant neoplasm of lung
|
|
0.050 |
GeneticVariation
|
BEFREE |
However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer.
|
29767749 |
2018 |
|
Primary malignant neoplasm
|
|
0.050 |
GeneticVariation
|
BEFREE |
The cancer risks associated with K3326* are fundamentally different from those associated with 999del5.
|
29767749 |
2018 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
The cancer risks associated with K3326* are fundamentally different from those associated with 999del5.
|
29767749 |
2018 |