scholarly journals Cancer risks in women with 2 breast or ovarian cancers: Clues to genetic cancer susceptibility

2001 ◽  
Vol 94 (5) ◽  
pp. 758-759 ◽  
Author(s):  
Helen S. Evans ◽  
Cathryn M. Lewis ◽  
David Robinson ◽  
C.M. Janine Bell ◽  
Henrik M�ller ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Cancer Risks ◽  
Ovarian Cancers ◽  
Genetic Cancer Susceptibility

scholarly journals Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing

2006 ◽  
Vol 17 (7) ◽  
pp. 1090-1095 ◽  
Author(s):  
I. van Oostrom ◽  
H. Meijers-Heijboer ◽  
H.J. Duivenvoorden ◽  
A.H.J.T. Bröcker-Vriends ◽  
C.J. van Asperen ◽  
...  
Keyword(s):  
Risk Factor ◽  
Psychological Distress ◽  
Susceptibility Testing ◽  
Cancer Susceptibility ◽  
Parental Cancer ◽  
Genetic Cancer Susceptibility

Synchronous Presentation of an Askin Tumor and a Plasmacytoma in an Adult Patient

2003 ◽  
Vol 89 (3) ◽  
pp. 324-327 ◽  
Author(s):  
Rodrigo Fresco ◽  
Lyber Saldombide ◽  
Lilians Suárez
Keyword(s):  
Chromosomal Abnormalities ◽  
Cancer Susceptibility ◽  
Simultaneous Occurrence ◽  
Round Cell ◽  
Tumor Treatment ◽  
Small Round Cell ◽  
Askin Tumor ◽  
Neuroectodermal Tumors ◽  
The Family ◽  
Genetic Cancer Susceptibility

Askin tumor, or malignant small round cell tumor of the thoracopulmonary region, is an extremely infrequent entity occurring primarily in children and adolescents. Its histopathologic and cytogenetic features suggest that it belongs to the family of Ewing's sarcoma and primitive neuroectodermal tumors. We report the case of a 43-year-old woman affected by an Askin tumor with bone metastases at diagnosis, presenting synchronously with a plasmacytoma. This is the first reported case of the simultaneous occurrence of an Askin tumor and a malignant hemopathy. The progression of the former and the remission of the plasmacytoma during chemotherapy were remarkable, since Askin tumor treatment shares drugs used for the treatment of plasma cell tumors. Given the infrequent presentation of these diseases in a young adult and the coexistence of two neoplasias characterized by typical chromosomal abnormalities, we consider the possibility of a genetic cancer susceptibility in our patient.

scholarly journals Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

2017 ◽  
Vol 35 (20) ◽  
pp. 2240-2250 ◽  
Author(s):  
Julie Lecarpentier ◽  
Valentina Silvestri ◽  
Karoline B. Kuchenbaecker ◽  
Daniel Barrowdale ◽  
Joe Dennis ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Cancer Susceptibility ◽  
Prostate Cancer Risk ◽  
Risk Scores ◽  
Cancer Risks ◽  
Prostate Cancer Susceptibility ◽  
Common Genetic Variants ◽  
Breast And Prostate Cancer ◽  
Male Carriers

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated—for the first time to our knowledge—associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights. Results In male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 × 10−6). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 × 10−9). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. Conclusion PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

scholarly journals Meta-analysis and trial sequential analysis of LncRNA H19 polymorphic variants on susceptibility to cancer

2020 ◽  
Author(s):  
Kunpeng Wang ◽  
Zheng Zhu ◽  
Yiqiu Wang ◽  
Dayuan Zong ◽  
Peng Xue ◽  
...  
Keyword(s):  
Subgroup Analysis ◽  
Sequential Analysis ◽  
Cancer Susceptibility ◽  
Human Cancer ◽  
Meta Analysis ◽  
Population Based ◽  
Trial Sequential Analysis ◽  
Control Group ◽  
Cancer Risks ◽  
Polymorphic Variants

Abstract Background: Although myriad researches upon the associations between LncRNA H19 polymorphic variants (rs2839698 G﹥A, rs3024270 C﹥G, rs2107425 C﹥T, rs2735971 A﹥G and rs217727 G﹥A) and the susceptibility to cancer have been conducted, these results remained contradictory and perplexing. Basing on that, a systematic review and updated meta-analysis was conducted to anticipate a fairly precise assessment about these associations. Methods: We retrieved the electronic databases EMBASE, PubMed and Web of Science for valuable academic studies before October 1st, 2019. Ultimately, 24 of which were encompassed after screening, and the available data was extracted and integrated. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) was adopted to evaluate the strength of these associations. For multi-level investigation, subgroup analysis derived from source of controls together with genotypic method was preformed. Eventually, 24 articles altogether embodying 52 studies were included. Results: The results illuminated that LncRNA H19 SNPs mentioned above were all irrelevant to cancer susceptibility. Nevertheless, crucial results were found concentrated in population-based control group when subgroup analysis by source of controls were performed in H19 mutation rs2839698 and rs2735971. Meanwhile, in the stratification analysis by genotypic method, apparent cancer risks were discovered by TaqMan method in H19 mutation rs2107425 and rs3024270. Then, trial sequential analysis (TSA) demonstrated that the results about such associations were firm evidence of effect, except rs2735971 polymorphism. Conclusion: Therefore, this meta-analysis indicated that LncRNA H19 SNPs were not associated with the susceptibility to human cancer. However, after the stratification analysis, inconsistent results still existed in different genotypic method and source of control. Thus, more high-quality studies on cancer patients of different factors were needed to confirm these findings.

scholarly journals Breast cancer risks associated with missense variants in breast cancer susceptibility genes

2021 ◽  
Author(s):  
Leila Dorling ◽  
Sara Carvalho ◽  
Jamie Allen ◽  
Michael Parsons ◽  
Cristina Fortuno ◽  
...  
Keyword(s):  
Breast Cancer ◽  
In Silico ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Cancer Risks ◽  
Functional Protein ◽  
Missense Variants ◽  
Cancer Susceptibility Genes ◽  
Gene Panel Testing ◽  
Brca1 Brca2

BACKGROUND Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2 and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. METHODS Combining 59,639 breast cancer cases and 53,165 controls, we sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1,146 training variants), BRCA1 (644), BRCA2 (1,425), CHEK2 (325) and PALB2 (472). We evaluated breast cancer risks according to five in-silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. RESULTS The most predictive in-silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1 and BRCA2, data were compatible with small subsets (approximately 7%, 2% and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47-2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best fitting models were well calibrated in the validation set. CONCLUSIONS These results will inform risk prediction models and the selection of candidate variants for functional assays, and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility.

Comparing and assessing the reported penetrance of cancer susceptibility genes for breast cancer.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1520-1520
Author(s):  
Kanhua Yin ◽  
Danielle Braun ◽  
Ankur Tiwari ◽  
Jin Wang ◽  
Preeti Singh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
General Population ◽  
Case Control Study ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Case Control ◽  
Cancer Risks ◽  
Cancer Susceptibility Genes ◽  
Increased Risk ◽  
Control Study

1520 Background: It is critical for oncologists to be aware of unbiased and interpretable cancer risks (i.e., penetrance) in carriers with germline pathogenic variants in cancer susceptibility genes. However, relevant literature is large and varies significantly in study design, patient ascertainment, and types of risk estimates reported. This heterogeneity can cause inconsistent conclusions between studies and create barriers for clinicians to understand and apply them in practice. To further understand the current literature, we assessed penetrance studies associated with non-BRCA breast cancer susceptibility genes based on study design and ascertainment adjustment. Methods: We used a validated natural language processing-based abstract classifier to identify all penetrance studies regarding eleven genes: ATM, BARD1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RECQL, STK11, and TP53. Relevant studies were then manually annotated as “with ascertainment adjustment” if a study was based on: (1) a general population; (2) a pedigree analysis or a family-based study with appropriate ascertainment adjustment; or (3) a hospital-based study or a panel testing analysis with well-matched cases and controls. Results: A total of 49 penetrance studies were identified, with a median of nine studies for each gene (range: 4-16). The case-control study was the dominant study type, accounting for over 80% in five genes, 50% in two genes, and 18% to 43% in the other four genes. The proportion of studies with ascertainment adjustment was generally low (mean: 33%) and varied widely between different genes (7% to 80%). Contradictory breast cancer risks (no increased risk vs. significantly increased risk) were found in eight genes (73%) (Table). The most common ascertainment bias identified was a case-control study with cases (patients) who had a strong family history but using general population controls. Conclusions: Ascertainment bias is common in penetrance studies, but few studies adjust for it appropriately. Clinicians should be aware of this issue, and new methods are warranted to select unbiased risk estimates, synthesize them, and provide the accurate general-population penetrance. [Table: see text]

Genetic Cancer Susceptibility and DNA Adducts: Studies in Smokers, Tobacco Chewers, and Coke Oven Workers

1999 ◽  
Vol 23 (6) ◽  
pp. 445-453 ◽  
Author(s):  
Helmut Bartsch ◽  
Margarita Rojas ◽  
Urmila Nair ◽  
Jagadeesan Nair ◽  
Kroum Alexandrov
Keyword(s):  
Dna Adducts ◽  
Cancer Susceptibility ◽  
Coke Oven ◽  
Coke Oven Workers ◽  
Genetic Cancer Susceptibility

scholarly journals No association between HMGB1 polymorphisms and cancer risk: evidence from a meta-analysis

2018 ◽  
Vol 38 (5) ◽  
Author(s):  
Xing-yan Li ◽  
Chun-hua Liang ◽  
Ye-jing Yang ◽  
Lei Liu ◽  
Yong-jun Du ◽  
...  
Keyword(s):  
Cancer Progression ◽  
Large Scale ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
High Mobility ◽  
Statistical Association ◽  
Cancer Risks ◽  
Data Collection Sheet ◽  
Language Restriction ◽  
Risk Of Cancer

The aim of the present study was to determine whether High mobility group box 1 (HMGB1) polymorphism was associated with cancer susceptibility. PubMed, Embase, and ISI Web of Science were extensively searched without language restriction. Data were extracted using a standardized data collection sheet after two reviewers scanned studies independently. The association between HMGB1 polymorphism and cancer risks was indicated as odds ratio (OR) along with its related 95% confidence interval (95%CI). Meta-analysis was conducted via RevMan 5.3 software. A total of ten studies comprising 4530 cases and 5167 controls were included in our study. Meta-analysis revealed no statistical association between rs1045411, rs1360485, rs1412125, or rs2249825 polymorphisms in HMGB1 gene and risk of cancer, either did subgroup analysis of rs1045411 stratified by cancer types and ethnic groups. Our results revealed no statistical association between current four polymorphism loci and cancer risks, suggesting that the attempt of applying HMGB1 variants as a therapeutic target or a prognosis predictor might still require a second thought. However, HMGB1 is deemed to play pleiotropic roles in cancers, we strongly call for large-scale studies with high evidence level to uncover the exact relationship between HMGB1 gene variants and cancer progression.

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