|
Prostate carcinoma
|
|
0.710 |
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 |
|
Malignant Neoplasms
|
|
0.050 |
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 |
|
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 of lung
|
|
0.050 |
GeneticVariation
|
BEFREE |
We did not identify increased frequencies of oesophageal, pancreatic or lung cancer in families with just BRCA2 c.9976A>T using person-years at risk analysis.
|
26041759 |
2015 |
|
Primary malignant neoplasm
|
|
0.050 |
GeneticVariation
|
BEFREE |
The cancer risks associated with K3326* are fundamentally different from those associated with 999del5.
|
29767749 |
2018 |
|
Primary malignant neoplasm
|
|
0.050 |
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 Neoplasms
|
|
0.050 |
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 |
|
Primary malignant neoplasm
|
|
0.050 |
GeneticVariation
|
BEFREE |
We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations.
|
25838448 |
2015 |
|
Primary malignant neoplasm
|
|
0.050 |
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 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
The cancer risks associated with K3326* are fundamentally different from those associated with 999del5.
|
29767749 |
2018 |
|
Primary malignant neoplasm
|
|
0.050 |
GeneticVariation
|
BEFREE |
It is likely that the previous associations of increased cancer risks due to BRCA2c.9976A>T represent reporting bias and are contributed to because the variant is in LD with BRCA2c.6275_6276delTT.
|
26041759 |
2015 |
|
Primary malignant neoplasm of lung
|
|
0.050 |
GeneticVariation
|
BEFREE |
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 |
|
Primary malignant neoplasm of lung
|
|
0.050 |
GeneticVariation
|
BEFREE |
Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer.
|
27632928 |
2016 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
It is likely that the previous associations of increased cancer risks due to BRCA2c.9976A>T represent reporting bias and are contributed to because the variant is in LD with BRCA2c.6275_6276delTT.
|
26041759 |
2015 |
|
Primary malignant neoplasm of lung
|
|
0.050 |
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 |
|
Malignant Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations.
|
25838448 |
2015 |
|
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 |
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 |
|
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 |
|
Neoplasms
|
|
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 |
|
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 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
|
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
|
|
0.010 |
GeneticVariation
|
BEFREE |
Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma.
|
30672594 |
2019 |
|
Glioblastoma Multiforme
|
|
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 |