|
rs28897759
|
|
Malignant neoplasm of breast
|
|
0.810 |
GeneticVariation
|
BEFREE |
We analyzed a missense VUS located in BRCA2 (p.Asn3124Ile; HGVS: BRCA2 c.9371A > T) present in seven independent high-risk breast cancer families that were counseled and genetically tested in South-West Germany.
|
24728577 |
2014 |
|
rs11571833
|
|
Malignant neoplasm of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Carcinoma of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Carcinoma of lung
|
|
0.750 |
GeneticVariation
|
BEFREE |
Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer.
|
27632928 |
2016 |
|
rs11571833
|
|
Carcinoma of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Malignant neoplasm of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Malignant neoplasm of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Carcinoma of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Malignant neoplasm of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Malignant neoplasm of lung
|
|
0.750 |
GeneticVariation
|
BEFREE |
Previous studies have shown that two rare variants, rs11571833 in BRCA2 and rs17879961 in CHEK2 were associated with lung cancer.
|
27632928 |
2016 |
|
rs11571833
|
|
Carcinoma of lung
|
|
0.750 |
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 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk.
|
25838448 |
2015 |
|
rs11571833
|
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer.
|
26041759 |
2015 |
|
rs11571833
|
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer.
|
26586665 |
2016 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer.
|
26586665 |
2016 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
|
26455428 |
2015 |
|
rs11571833
|
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk.
|
26455428 |
2015 |
|
rs11571833
|
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer.
|
26041759 |
2015 |
|
rs11571833
|
|
Breast Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk.
|
25838448 |
2015 |
|
rs80359065
|
|
Malignant neoplasm of breast
|
|
0.730 |
GeneticVariation
|
BEFREE |
Remarkably, FA-AML1 cells appeared to lack the characteristic cellular FA phenotype, i.e., a hypersensitivity to growth inhibition and chromosomal breakage by the cross-linking agent mitomycin C. Genomic DNA from the patient showed biallelic mutations [8415G>T (K2729N)and 8732C>A (S2835STOP)] in the breast cancer susceptibility gene FANCD1/BRCA2 [N. Howlett et al., Science (Wash. DC), 297: 606-609, 2002].
|
12750298 |
2003 |
|
rs80359065
|
|
Malignant neoplasm of breast
|
|
0.730 |
GeneticVariation
|
BEFREE |
The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <i>P</i> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <i>P</i> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <i>P</i> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <i>P</i> = 0.004) were associated with moderate and low risks of breast cancer among Asians.
|
28283652 |
2017 |
|
rs80359065
|
|
Malignant neoplasm of breast
|
|
0.730 |
GeneticVariation
|
BEFREE |
We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively.
|
28419251 |
2017 |
|
rs11571833
|
|
Squamous cell carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
|
29767749 |
2018 |
|
rs11571833
|
|
Squamous cell carcinoma of lung
|
|
0.720 |
GeneticVariation
|
BEFREE |
More importantly, rare, deleterious germline variants were enriched in <i>Fanconi anemia</i> genes even without the <i>BRCA2</i> rs11571833 variant that is strongly enriched in lung SqCC cases (joint OR = 2.76; <i>P</i> = 7.0e-04; 95% CI, 1.6-4.7).
|
30425093 |
2019 |
|
rs11571833
|
|
Squamous cell carcinoma
|
|
0.720 |
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 |