scholarly journals Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

2016 ◽  
Author(s):  
Mykyta Artomov ◽  
Manuel A. Rivas ◽  
Giulio Genovese ◽  
Mark J. Daly
Keyword(s):  
Ovarian Cancer ◽  
Solid Tumor ◽  
Case Control Study ◽  
Lung Cancers ◽  
Cancer Types ◽  
Cancer Phenotypes ◽  
Mosaic Protein ◽  
Tumor Dna ◽  
Control Study

AbstractRecent findings in understanding the causal role of blood-detectable somatic protein-truncating DNA variants in leukemia prompt questions about generalizability of such observations for other cancer types. We used exome sequencing to compare 22 different cancer phenotypes from TCGA data (~8,000 samples) with more than 6,000 controls using a case-control study design and demonstrate that mosaic protein truncating variants in these genes are also associated with solid-tumor cancers. We analyzed tumor DNA samples from TCGA and observed that the cancer-associated mosaic variants are absent from the tumors.Through analysis of different cancer phenotypes we observe gene-specificity for mosaic mutations. PPM1D in previous reports has been linked to breast and ovarian cancer, which our analysis confirms as a specifically associated to ovarian cancer. Additionally, glioblastoma, melanoma and lung cancers show gene specific burden of the mosaic protein truncating mutations. Taken together, these results extend existing observations broadly and link solid-tumor cancers to somatic blood DNA changes.

Lung Cancer After Hodgkin’s Disease: A Nested Case-Control Study of the Relation to Treatment

2001 ◽  
Vol 19 (6) ◽  
pp. 1610-1618 ◽  
Author(s):  
A. J. Swerdlow ◽  
M. J. Schoemaker ◽  
R. Allerton ◽  
A. Horwich ◽  
J. A. Barber ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Hodgkin's Disease ◽  
Case Control Study ◽  
Hodgkin’S Disease ◽  
Case Control ◽  
Lung Cancers ◽  
Number Of Cycles ◽  
Nested Case Control ◽  
Control Study

PURPOSE: To investigate the causes of the raised risk of lung cancer in patients who have had Hodgkin’s disease, and in particular the relationship to treatment. PATIENTS AND METHODS: A nested case-control study was conducted within a cohort of 5,519 patients with Hodgkin’s disease treated in Britain during 1963 through 1993. For 88 cases of lung cancer and 176 matched control subjects, information on treatment and other risk factors was extracted from hospital case-notes, and odds ratios for lung cancer in relation to these factors were calculated. RESULTS: Risk of lung cancer was borderline significantly greater in patients treated with mechlorethamine, vincristine, procarbazine, and prednisone (MOPP) chemotherapy than those who did not receive this treatment (relative risk [RR] = 1.66; 95% confidence interval [CI], 0.99 to 2.82), and increased with number of cycles of MOPP (P = .07). Exclusion of lung cancers for which histologic confirmation was not available strengthened these associations (RR = 2.41; 95% CI, 1.33 to 4.51; P = .004 for any MOPP and P = .007 for trend with number of cycles of MOPP). Risks were not raised, however, after chlorambucil, vinblastine, procarbazine, and prednisone treatment. There was evidence that the raised risk of lung cancer occurring in relation to radiotherapy was restricted to histologies other than adenocarcinoma. CONCLUSION: The results suggest that MOPP chemotherapy may lead to elevated risk of lung cancer, at least in certain subgroups of patients. The role of chemotherapy in the etiology of lung cancer after Hodgkin’s disease deserves further investigation.

scholarly journals Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Islam E. Elkholi ◽  
Massimo Di Iorio ◽  
Somayyeh Fahiminiya ◽  
Suzanna L. Arcand ◽  
HyeRim Han ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Clinical Utility ◽  
Case Control Study ◽  
Genetic Test ◽  
Molecular Function ◽  
Breast And Ovarian Cancer ◽  
Increased Risk ◽  
Somatic Alterations ◽  
Control Study

AbstractThe nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1-related molecular function in the DNA repair pathway. However, whether MRE11A is a true predisposition gene for HBOC is still questionable. We determined to investigate this notion by dissecting the molecular genetics of the c.1516G > T;p.E506* truncating MRE11A variant, that we pinpointed in two unrelated French-Canadian (FC) HBOC patients. We performed a case–control study for the variant in ~ 2500 breast, ovarian, and endometrial cancer patients from the founder FC population of Quebec. Furthermore, we looked for the presence of second somatic alterations in the MRE11A gene in the tumors of the carriers. In summary, these investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer. We finally performed a systematic review for all the previously reported MRE11A variants in breast and ovarian cancer. We found that MRE11A germline variants annotated as pathogenic on ClinVar often lacked evidence for such classification, hence misleading the clinical management for affected patients. In summary, our report suggests the lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations.

scholarly journals Role of plasma MicroRNAs in the early diagnosis of non-small-cell lung cancers: a case-control study

2016 ◽  
Vol 8 (7) ◽  
pp. 1645-1652 ◽  
Author(s):  
Xin Wang ◽  
Xiuyi Zhi ◽  
Yi Zhang ◽  
Guangyu An ◽  
Guosheng Feng
Keyword(s):  
Early Diagnosis ◽  
Case Control Study ◽  
Case Control ◽  
Small Cell ◽  
Small Cell Lung ◽  
Lung Cancers ◽  
Control Study

scholarly journals Diagnostic utility of a Ferritin-to-Procalcitonin Ratio to differentiate patients with COVID-19 from those with Bacterial Pneumonia: A multicenter study

2021 ◽  
Author(s):  
Amal A Gharamti ◽  
Fei Mei ◽  
Katherine C Jankousky ◽  
Jin Huang ◽  
Peter Hyson ◽  
...  
Keyword(s):  
Bacterial Pneumonia ◽  
Operating Characteristic ◽  
Case Control Study ◽  
Receiver Operating Characteristic Analysis ◽  
Similar Proportion ◽  
Characteristic Analysis ◽  
Multivariable Analyses ◽  
Prevalence Of Diabetes Mellitus ◽  
Control Study

Abstract Background There is an urgent need for accurate, rapid, inexpensive biomarkers that can differentiate COVID-19 from bacterial pneumonia. We assess the role of the ferritin-to-procalcitonin (F/P) ratio to classify pneumonia cases into those due to COVID-19 or due to bacterial pathogens. Methods This multicenter case-control study compared patients with either COVID-19 and bacterial pneumonia, admitted between March 1 and May 31, 2020. Patients with COVID-19 and bacterial pneumonia co-infection were excluded. The F/P in patients with COVID-19 or with bacterial pneumonia were compared. Receiver operating characteristic analysis determined the sensitivity and specificity of various cut-off F/P values for COVID-19 versus bacterial pneumonia. Results A total of 242 COVID-19 pneumonia cases and 34 bacterial pneumonia controls were included. Patients with COVID-19 pneumonia had a lower mean age (57.11 vs 64.4 years, p=0.02) and a higher BMI (30.74 vs 27.15 kg/m 2, p=0.02) compared to patients with bacterial pneumonia. Cases and controls had a similar proportion of women (47% vs 53%, p=0.5) and COVID-19 patients had a higher prevalence of diabetes mellitus (32.6% vs 12%, p=0.01). The median F/P was significantly higher in patients with COVID-19 (4037.5) compared to the F/P in bacterial pneumonia (802, p<0.001). An F/P ≥ 877 used to diagnose COVID-19 resulted in a sensitivity of 85% and a specificity of 56%, with a positive predictive value of 93.2%, and a likelihood ratio of 1.92. In multivariable analyses, an F/P ≥ 877 was associated with greater odds of identifying a COVID-19 case (OR: 11.27, CI: 4-31.2, p<0.001). Conclusion An F/P ≥ 877 increases the likelihood of COVID-19 pneumonia compared to bacterial pneumonia.

scholarly journals Gly972Arg Variant of Insulin Receptor Substrate 1 Gene and Colorectal Cancer Risk in Overweight/Obese Subjects

2016 ◽  
Vol 31 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Touraj Mahmoudi ◽  
Keivan Majidzadeh-A ◽  
Khatoon Karimi ◽  
Hamid Farahani ◽  
Reza Dabiri ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Insulin Receptor ◽  
Case Control Study ◽  
Insulin Receptor Substrate ◽  
Protective Effects ◽  
Insulin Receptor Substrate 1 ◽  
Pcr Rflp ◽  
Obese Subjects ◽  
Control Study

Background Given the major role of obesity and insulin resistance (IR) in colorectal cancer (CRC), we investigated whether genetic variants in ghrelin ( GHRL), resistin ( RETN) and insulin receptor substrate 1 ( IRS1) were associated with CRC risk. Methods This study was conducted as a case-control study, and 750 subjects, including 438 controls and 312 patients with CRC, were enrolled and genotyped using the PCR-RFLP method. Results No significant differences were observed for GHRL (rs696217), RETN (rs3745367) and IRS1 (rs1801278, Gly972Arg or G972R) gene variants between the cases and controls. However, the IRS1 G972R R allele compared with the G allele and the G972R RR+GR genotype compared with the GG genotype appeared to be markers of decreased CRC susceptibility in the overweight/obese subjects (p = 0.024; odds ratio [OR] = 0.42, 95% confidence interval [95% CI], 0.20-0.91; and p = 0.048; OR = 0.42, 95% CI, 0.17-0.99, respectively). Furthermore, the R allele and RR+GR genotype were also associated with decreased risks for obesity in the patients with CRC (p = 0.007; OR = 0.35, 95% CI, 0.15-0.77; and p = 0.015; OR = 0.35, 95% CI, 0.15-0.72, respectively). Conclusions In accordance with previous studies, our findings suggest that the IRS1 G972R R allele and RR+GR genotype have protective effects for CRC in overweight/obese patients and for obesity in patients with CRC. Nevertheless, further studies are required to confirm these findings.

A case-control study of epithelial ovarian cancer

1989 ◽  
Vol 161 (1) ◽  
pp. 10-16 ◽  
Author(s):  
Patricia Hartge ◽  
Mark H. Schiffman ◽  
Robert Hoover ◽  
Larry McGowan ◽  
Linda Lesher ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Case Control Study ◽  
Case Control ◽  
Control Study
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