scholarly journals Population-Based Estimates of the Age-Specific Cumulative Risk of Breast Cancer for Pathogenic Variants in CHEK2: Findings from the Australian Breast Cancer Family Registry

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1378
Author(s):  
Tú Nguyen-Dumont ◽  
James G. Dowty ◽  
Jason A. Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cumulative Risk ◽  
Population Based ◽  
Case Control ◽  
Cancer Information ◽  
Case Control Studies ◽  
Breast Cancer Family ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Control Family

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein-truncating variant CHEK2 c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. We conducted a population-based case-control-family study of pathogenic CHEK2 variants (26 families, 1071 relatives) and estimated the age-specific cumulative risk of breast cancer using segregation analysis. The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5–9.5) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02–11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5–12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11–30%) and 33% (95% CI 21–48%) to age 60 and 80 years, respectively. These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.

scholarly journals Population-based estimates of the age-specific cumulative risk of breast cancer for pathogenic variants in CHEK2: Findings from the Australian Breast Cancer Family Registry.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 551-551
Author(s):  
Tu Nguyen-Dumont ◽  
James Dowty ◽  
Jason A Steen ◽  
Anne-Laure Renault ◽  
Fleur Hammet ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cumulative Risk ◽  
Population Based ◽  
Case Control ◽  
Cancer Information ◽  
Case Control Studies ◽  
Breast Cancer Family ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Control Family

551 Background: Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold increased risk of breast cancer. Information about the recurrent protein truncating variant CHEK2c.1100delC dominates this estimate. There have been no formal estimates of age-specific cumulative risk of breast cancer for all CHEK2 pathogenic (including likely pathogenic) variants combined. Methods: We conducted a genetic screen of CHEK2 in an Australian population-based case-control-family study of breast cancer. This study is focused on disease at an early age and participants were unselected for family history. The age-specific cumulative risk (penetrance) of breast cancer was estimated using segregation analysis. Results: The estimated hazard ratio for carriers of pathogenic CHEK2 variants (combined) was 4.9 (95% CI 2.5-9.5; p < 0.0001) relative to non-carriers. The HR for carriers of the CHEK2 c.1100delC variant was estimated to be 3.5 (95% CI 1.02-11.6) and the HR for carriers of all other CHEK2 variants combined was estimated to be 5.7 (95% CI 2.5-12.9). The age-specific cumulative risk of breast cancer was estimated to be 18% (95% CI 11-30%) and 33% (95% CI 21-48%) to age 60 and 80 years, respectively. Conclusions: These findings provide important information for the clinical management of breast cancer risk for women carrying pathogenic variants in CHEK2.

scholarly journals Association of interleukin 10 rs1800896 polymorphism with susceptibility to breast cancer: a meta-analysis

2020 ◽  
Vol 48 (4) ◽  
pp. 030006052090486 ◽  
Author(s):  
ZiYin Zhu ◽  
Ji-Bin Liu ◽  
Xi Liu ◽  
LinXue Qian
Keyword(s):  
Breast Cancer ◽  
Meta Analysis ◽  
Interleukin 10 ◽  
Population Based ◽  
Case Control ◽  
Recessive Model ◽  
Breast Cancers ◽  
Case Control Studies ◽  
Asian Populations ◽  
Increased Risk

Objective To evaluate the correlation between interleukin 10 (IL-10) −1082A/G polymorphism (rs1800896) and breast cancers by performing a meta-analysis. Methods The Embase and Medline databases were searched through 1 September 2018 to identify qualified articles. Odds ratios (OR) and corresponding 95% confidence intervals (CIs) were applied to evaluate associations. Results In total, 14 case-control studies, including 5320 cases and 5727 controls, were analyzed. We detected significant associations between the IL10 −1082 G/G genotype and risk of breast cancer (AA + AG vs. GG: OR = 0.88, 95% CI = 0.80–0.97). Subgroup analyses confirmed a significant association in Caucasian populations (OR = 0.89, 95% CI = 0.80–0.99), in population-based case-control studies (OR = 0.87, 95% CI = 0.78–0.96), and in studies with ≥500 subjects (OR = 0.88, 95% CI = 0.79–0.99) under the recessive model (AA + AG vs. GG). No associations were found in Asian populations. Conclusions The IL10 −1082A/G polymorphism is associated with an increased risk of breast cancer. The association between IL10 −1082 G/G genotype and increased risk of breast cancer is more significant in Caucasians, in population-based studies, and in larger studies.

scholarly journals The Association between PON1 (Q192R and L55M) Gene Polymorphisms and Risk of Cancer: A Meta-Analysis Based on 43 Studies

2019 ◽  
Vol 2019 ◽  
pp. 1-14 ◽  
Author(s):  
Xiaolan Pan ◽  
Lei Huang ◽  
Meiqin Li ◽  
Dan Mo ◽  
Yihua Liang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Population Based ◽  
Case Control ◽  
Cancer Type ◽  
Case Control Studies ◽  
Increased Risk ◽  
Risk Of Cancer

Q192R and L55M polymorphism were considered to be associated with the development of multiple cancers. Nevertheless, the results of these researches were inconclusive and controversial. Therefore, we conducted a meta-analysis of all eligible case-control studies to assess the association between PON1 (Q192R and L55M) gene polymorphisms and risk of cancer. With the STATA 14.0 software, we evaluated the strength of the association by using the odds ratios (ORs) and 95% confidence intervals (CIs). A total of 43 case-control publications 19887 cases and 23842 controls were employed in our study. In all genetic models, a significant association between PON1-L55M polymorphisms and overall cancer risk was observed. Moreover, in the stratified analyses by cancer type, polymorphism of PON1-L55M played a risk factor in the occurrence of breast cancer, hematologic cancer, and prostate cancer. Similarly, an increased risk was observed in the Caucasian and Asian population as well as hospital-based group and population-based group. For PON1-Q192R polymorphisms, in the stratified analyses by cancer type, PON1-Q192R allele was associated with reduced cancer risks in breast cancer. Furthermore, for racial stratification, there was a reduced risk of cancer in recession model in Caucasian population. Similarly, in the stratification analysis of control source, the overall risk of cancer was reduced in the heterozygote comparison and dominant model in the population-based group. In conclusion, PON1-Q192R allele decreased the cancer risk especially breast cancer; there was an association between PON1-L55M allele and increased overall cancer risk. However, we need a larger sample size, well-designed in future and at protein levels to confirm these findings.

scholarly journals Oral Contraceptive Use and Breast Cancer Risk Assessment: A Systematic Review and Meta-Analysis of Case-Control Studies, 2009–2020

Cancers ◽  
2021 ◽  
Vol 13 (22) ◽  
pp. 5654
Author(s):  
Agnieszka Barańska ◽  
Agata Błaszczuk ◽  
Wiesław Kanadys ◽  
Maria Malm ◽  
Katarzyna Drop ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Oral Contraceptive ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Case Control ◽  
Cochrane Library ◽  
Control Group ◽  
Case Control Studies ◽  
Increased Risk ◽  
Breast Cancer Risk Assessment

To perform a meta-analysis of case-control studies that addressed the association between oral contraceptive pills (OC) use and breast cancer (BrCa), PubMED (MEDLINE), Embase, and the Cochrane Library were searched to identify case-control studies of OC and BrCa published between 2009 and 2020. We used the DerSimonian–Laird method to compute pooled odds ratios (ORs) and confidence intervals (CIs), and the Mantel–Haenszel test to assess the association between OC use and cancer. Forty-two studies were identified that met the inclusion criteria and we included a total of 110,580 women (30,778 into the BrCa group and 79,802 into the control group, of which 15,722 and 38,334 were using OC, respectively). The conducted meta-analysis showed that the use of OC was associated with a significantly increased risk of BrCa in general, OR = 1.15, 95% CI: 1.01 to 1.31, p = 0.0358. Regarding other risk factors for BrCa, we found that increased risk was associated significantly with early menarche, nulliparous, non-breastfeeding, older age at first parity, postmenopause, obesity, smoking, and family history of BrCa. Despite our conclusion that birth control pills increase the cancer risk being supported by extensive previous studies and meta-analyzes, further confirmation is required.

The association between breast density and HER2-positive breast cancer: A population-based case-control study.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e12556-e12556
Author(s):  
Vivian Tan ◽  
Jennifer Payne ◽  
Nicole Paquet ◽  
Sian Iles ◽  
Daniel Rayson ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Density ◽  
Breast Screening ◽  
Hormone Replacement ◽  
Menopausal Status ◽  
Population Based ◽  
Case Control ◽  
Mammographic Breast Density ◽  
Her2 Positive ◽  
Increased Risk

e12556 Background: Little is known about the association between mammographic breast density and the subtypes of breast cancer including HER2-positive breast cancers (HER2-BrCa). The objective of this study was to assess the strength of association between breast density and HER2-BrCa in a population-based screening program. Methods: This is a population-based case-control breast cancer study of women aged 40 to 75 who underwent digital breast screening from 2009 to 2015 in Nova Scotia, Canada. Cases included women diagnosed with HER2-BrCa at screen or before their next screen (interval); controls included women without screen-detected cancer matched to cases by age and year of screen. Measures of mammographic breast density (percent density, BI-RADS-4th and -5th edition) were obtained from automated software (densitasai) and linked with clinical risk factor data (age, parity, total breast volume, post-menopausal status, hormone replacement therapy, family history and history of core biopsy). The association between breast density and cancer risk was assessed by calculating the odds ratios [OR] with 95% confidence intervals using multivariable logistic regression. Results: A total of 209 cases (median age, 58.8 years) and 6812 controls (median age, 59.4 years) were included. The risk of HER2-BrCa increased with increasing levels of percent breast density. High breast density according to BIRADS-4th and -5th editions was significantly associated with HER2-BrCa: BIRADS -4th 3/4 vs 1: OR 2.50 (1.68 - 3.68); BIRADS-5th C/D vs A: OR 2.58 (1.71 - 4.01). The association between higher breast density and increased risk of HER2-BrCa remained after adjustment for clinical factors. Conclusions: The risk of HER2-BrCa was associated with progressively higher mammographic breast density, although to a lesser extent than breast cancer in general. Accurate risk models including breast density may support the development of more breast-screening protocols that can lead to more strategic use of healthcare resources.

scholarly journals Association of PIN3 16-bp Duplication Polymorphism of TP53 gene with Breast Cancer Risk in Mali and A Meta-analysis.

2020 ◽  
Author(s):  
Brehima Diakite ◽  
Yaya Kassogue ◽  
Guimogo Dolo ◽  
Oumar Kassogue ◽  
Mamadou Lassine Keita ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Meta Analysis ◽  
Tp53 Gene ◽  
Case Control ◽  
Recessive Model ◽  
Case Control Studies ◽  
Random Effects Models ◽  
Increased Risk

Abstract Background. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53 gene. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.Methods. We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy appearing Malian women using PCR. In addition, we performed a meta-analysis of data from case-control studies published in articles retrieved from international databases (Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science). Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.Results. In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2+A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR =1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6,018 disease cases and 4,456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR=1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.Conclusion. The Malian case-control study suggests that PIN3 16-bp polymorphism duplication of TP53 gene is an important risk factor for breast cancer in Malian women. These findings are supported by the meta-analysis of studies from different ethnicities.

Obesity As a Risk Factor for Acute Promyelocytic Leukemia. Results from Population and Case-Control Studies Across Western Countries and Correlation with Gene Expression in the TCGA

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 448-448 ◽  
Author(s):  
Luca Mazzarella ◽  
Edoardo Botteri ◽  
Anthony Matthews ◽  
Davide Disalvatore ◽  
Vincenzo Bagnardi ◽  
...  
Keyword(s):  
Gene Expression ◽  
Risk Factor ◽  
Acute Promyelocytic Leukemia ◽  
Population Based ◽  
Case Control ◽  
Promyelocytic Leukemia ◽  
Transcriptional Analysis ◽  
Clinical Practice Research Datalink ◽  
Case Control Studies ◽  
Increased Risk

Abstract Background. Much uncertainty remains over the aetiology of Acute Myeloid Leukemia (AML) and of its biological subtypes, of which Acute Promyelocytic Leukemia (APL) is the best defined. In recent years, an elevated Body Mass Index (BMI) has been identified as a risk factor for several diseases. Whether BMI influences risk of developing AML and APL is not well understood. Methods. We have collated information from population-based and case-control studies conducted in four different countries. In the population-based study, we obtained data from the Clinical Practice Research Datalink, that includes primary care data of 5.2 million UK citizens. We identified APL and other leukemia cases using ICD identifiers ("APL" (n=24), "non APL-AML" (n=972), lymphoid leukemias ("LL", n=2724) and "other" (n=1850). We fitted linear models to investigate the association between BMI and any of the above leukemic classes. In the case-control studies, we analysed data from patients included in the PETHEMA (Spain, n=414) and GIMEMA (Italy, n=134) databases and patients from the USA-based AML genome sequencing study (the AML TCGA cohort with 22 additional cases characterized at Washington University-St Louis, n=42) ("case" cohorts). We then created age-, gender, ethnicity- and year of diagnosis-matched control cohorts from national BMI surveys and tested deviation of observed cases from expected controls. Lastly, we applied Quantitative Set Analysis for Gene Expression (quSAGE) analysis to investigate APL- or BMI-specific gene expression signatures from TCGA data Findings. In the UK population study, the Hazard Ratio per each 5 kg/m2 increase was 1.44 for APL (95% CI 1.0-2.08), 1.17 for non APL-AML (95% CI 1.10-1.26), 1.04 for LL (95% CI 1.0-1.09) and 1.10 for other leukemias (95% CI 1.04-1.15). In the case-control studies, BMI distribution in cases was significantly higher than expected from controls for all three cohorts: (Italy p<0.001, Spain p=0.011, USA p<0.001). quSAGE transcriptional analysis revealed significant enrichment of several pathways in APL vs other AMLs, in particular arachidonic and linoleic acid metabolism and upregulation of Insulin and IGF1 receptors. Interpretation. A higher BMI was associated with increased risk of leukemia, particularly APL; increased risk of APL was confirmed in all populations examined, irrespective of gender or ethnicity. Elevated BMI should be considered a risk factor for APL development. APL is associated with a characteristic metabolic transcriptional signature that might be responsible for some of its clinical features Disclosures Breccia: Novartis: Consultancy, Honoraria; Celgene: Honoraria; Pfizer: Honoraria; Ariad: Honoraria; Bristol Myers Squibb: Honoraria. Lo Coco:Lundbeck: Honoraria, Speakers Bureau; Novartis: Consultancy; Baxalta: Consultancy; Pfizer: Consultancy; Teva: Consultancy, Honoraria, Speakers Bureau.

scholarly journals The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Masoumeh Moslemi ◽  
Yousef Moradi ◽  
Hojat Dehghanbanadaki ◽  
Hamed Afkhami ◽  
Mansoor Khaledi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Meta Analysis ◽  
Predictive Ability ◽  
Case Control ◽  
Ataxia Telangiectasia Mutated ◽  
Case Control Studies ◽  
Predisposing Factor ◽  
Increased Risk ◽  
Atm Gene

Abstract Background Ataxia telangiectasia-mutated (ATM) gene contributes to repair damaged DNA and to regulate cell cycle; therefore, ATM variants seem to increase breast cancer risk; however, the results are controversial. So we conducted a systematic review and meta-analysis to clarify the pooled association between various ATM variants and the risk of breast cancer. Methods The relevant studies were searched through Scopus, Web of Science, PubMed and Cochrane. Stratified and subgroup analyses were performed to explore heterogeneity between studies and assess effects of study quality. The pooled estimates logarithm with standard error logarithm of odds ratio and relative risk with confidence interval were calculated. Results This study revealed that there is association between ATM variants and the risk of breast cancer; according to the seven adjusted case-control studies, OR of this association was estimated as 1.67 (95%CI: 0.73–3.82), according to nine unadjusted case-control studies, the crude OR was 2.27 (95% CI: 1.17–4.40) and according to two cohorts, the RR was estimated as 1.68 (95% CI: 1.17–2.40). Conclusions The ATM variants are associated with an increased risk of breast cancer that ATM V2424G mutation is detected as the most predisposing factor while ATM D1853V, L546V, and S707P variants have the least predictive ability.

scholarly journals The association between plant-based dietary patterns and risk of breast cancer: a case–control study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Somaye Rigi ◽  
Seyed Mohammad Mousavi ◽  
Sanaz Benisi-Kohansal ◽  
Leila Azadbakht ◽  
Ahmad Esmaillzadeh
Keyword(s):  
Breast Cancer ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Healthy Plant ◽  
Plant Foods ◽  
Bottom Quartile ◽  
Increased Risk ◽  
Adjusted Model ◽  
Control Study

AbstractLimited data are available, linking the plant-based diets to breast cancer (BC). We examined the association of overall plant-based diet index (PDI), hypothesized healthful (hPDI) and unhealthful versions of a plant-based diet index (uPDI) with BC in Iranian women. This population-based case–control study included 350 cases with newly diagnosed BC and 700 age-matched apparently healthy controls. We collected dietary data using a validated, Willett-format semi-quantitative food frequency questionnaire. Using these data, we generated a PDI by dedicating positive scores to plant foods, and reverse scores to animal foods, hPDI by assigning positive scores to healthy plant foods and reverse scores to less healthy plant foods and animal foods, and finally uPDI in which positive scores were assigned to less healthy plant foods and reverse scores to healthy plant foods and animal foods. After controlling for potential confounders, individuals in the highest quartile of PDI had 67% lower odds of BC than those in the lowest quartile (OR 0.33; 95% CI 0.22–0.50). Individuals with the greatest adherence to hPDI were 36% less likely to have BC than those with the lowest adherence, in the fully adjusted model (OR 0.64; 95% CI 0.43–0.94). In terms of uPDI, women in the top quartile had a 2.23 times greater chance of BC than those in the bottom quartile (OR 2.23; 95% CI 1.48–3.36). Greater adherence to PDI and hPDI was inversely associated with the risk of BC, whereas uPDI was associated with an increased risk.

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