Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13-4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76-6.14, p </p

Association of zinc level and polymorphism in <i>MMP-7</i> gene with prostate cancer in Polish population

<div><p>Introduction</p><p>Prostate cancer is one of the most commonly diagnosed malignancies among men in Western populations. Evidence reported in the literature suggests that zinc may be related to prostate cancer. In this study we evaluated the association of serum zinc levels and polymorphisms in genes encoding zinc-dependent proteins with prostate cancer in Poland.</p><p>Methods</p><p>The study group consisted of 197 men affected with prostate cancer and 197 healthy men. Serum zinc levels were measured and 5 single nucleotide polymorphisms in <i>MMP-1</i>, <i>MMP-2</i>, <i>MMP-7</i>, <i>MMP-13</i>, <i>MT2A</i> genes were genotyped.</p><p>Results</p><p>The mean serum zinc level was higher in prostate cancer patients than in healthy controls (898.9±12.01 μg/l vs. 856.6±13.05 μg/l, p<0.01). When compared in quartiles a significant association of higher zinc concentration with the incidence of prostate cancer was observed. The highest OR (OR = 4.41, 95%CI 2.07–9.37, p<0.01) was observed in 3^rd quartile (>853.0–973.9 μg/l). Among five analyzed genetic variants, rs11568818 in <i>MMP-7</i> appeared to be correlated with 2-fold increased prostate cancer risk (OR = 2.39, 95% CI = 1.19–4.82, p = 0.015).</p><p>Conclusion</p><p>Our results suggest a significant correlation of higher serum zinc levels with the diagnosis of prostate cancer. The polymorphism rs11568818 in <i>MMP-7</i> gene was also associated with an increased prostate cancer risk in Poland.</p></div

Genotypes for selected selenoproteins and the risk of laryngeal cancer.

<p>Genotypes for selected selenoproteins and the risk of laryngeal cancer.</p

Characteristics of Cases and Controls for Lung Cancer Study.

*<p>three never smoking controls were matched to lung cancer patients smoking <1pack-year.</p

Characteristics of Cases and Controls for Laryngeal Cancer Study.

<p>Characteristics of Cases and Controls for Laryngeal Cancer Study.</p

Serum selenium levels and the risk of laryngeal cancer.

<p>Serum selenium levels and the risk of laryngeal cancer.</p

Genotypes for selected selenoproteins and the risk of lung cancer.

<p>Genotypes for selected selenoproteins and the risk of lung cancer.</p

Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Additional file 1