Ataxia-Telangiectasia genes and breast cancer risk in a French family study

2005 ◽  
Vol 72 (S1) ◽  
pp. 73-80 ◽  
Author(s):  
Nadine Andrieu ◽  
Eve Cavaciuti ◽  
Anthony Laugé ◽  
Katia Ossian ◽  
Nicolas Janin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ataxia Telangiectasia ◽  
Screening Program ◽  
Neuronal Degeneration ◽  
Carrier Status ◽  
X Rays ◽  
Increased Risk ◽  
Exogenous Factors ◽  
Atm Protein ◽  
Risk Of Cancer

Ataxia-telangiectasia (AT) is a rare autosomal recessive early childhood disorder, characterized by progressive neuronal degeneration, immunological deficiency, radiosensitivity and an increased risk of cancer caused in most cases by mutations in the AT-mutated gene (ATM). Epidemiological studies on AT families have shown that AT heterozygous women have an increased risk of developing breast cancer (BC). The ATM protein plays a central role in the recognition and repair of DNA double-strand breaks and the subsequent activation of cell-cycle checkpoints. Whilst AT is a rare disease, 0·5–1% of the general population are estimated to be AT mutation carriers, thus any increases in the risks of cancer associated with ATM carrier status are of public health relevance. The main results of our published studies on the risk of BC in 34 French AT families according to heterozygote status, type of ATM mutation and exogenous factors are summarized here. The risk of BC was higher in ATM heterozygous (HetATM) women and did not differ significantly according to the type of ATM mutation (missense vs truncating) carried by the AT family members but appeared associated with the position of some truncating mutations in certain binding domains of the ATM protein. The effect of exogenous factors, such as reproductive life factors and exposure to ionizing radiation, on the risk of BC according to ATM heterozygote status was assessed. There was no evidence for interaction (except for age at first full-term pregnancy). These findings does not appear to justify a separate screening program from that already available to other women with a first-degree relative affected by BC, as their risks have similar amplitude. Chest X-rays did not appear to be a risk factor for BC in our study population. More powerful studies, using data sets pooled from international sources are being set up to confirm these observations.

scholarly journals Changes in Metabolic Syndrome Status and Breast Cancer Risk: A Nationwide Cohort Study

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1177
Author(s):  
In Young Choi ◽  
Sohyun Chun ◽  
Dong Wook Shin ◽  
Kyungdo Han ◽  
Keun Hye Jeon ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metabolic Syndrome ◽  
Proportional Hazards ◽  
Screening Program ◽  
Cox Proportional Hazards ◽  
Cox Proportional Hazards Models ◽  
Hazard Ratios ◽  
Increased Risk ◽  
Health Screening Program ◽  
Design And Methods

Objective: To our knowledge, no studies have yet looked at how the risk of developing breast cancer (BC) varies with changes in metabolic syndrome (MetS) status. This study aimed to investigate the association between changes in MetS and subsequent BC occurrence. Research Design and Methods: We enrolled 930,055 postmenopausal women aged 40–74 years who participated in a biennial National Health Screening Program in 2009–2010 and 2011–2012. Participants were categorized into four groups according to change in MetS status during the two-year interval screening: sustained non-MetS, transition to MetS, transition to non-MetS, and sustained MetS. We calculated multivariable-adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs) for BC incidence using the Cox proportional hazards models. Results: At baseline, MetS was associated with a significantly increased risk of BC (aHR 1.11, 95% CI 1.06–1.17) and so were all of its components. The risk of BC increased as the number of the components increased (aHR 1.46, 95% CI 1.26–1.61 for women with all five components). Compared to the sustained non-MetS group, the aHR (95% CI) for BC was 1.11 (1.04–1.19) in the transition to MetS group, 1.05 (0.96–1.14) in the transition to non-MetS group, and 1.18 (1.12–1.25) in the sustained MetS group. Conclusions: Significantly increased BC risk was observed in the sustained MetS and transition to MetS groups. These findings are clinically meaningful in that efforts to recover from MetS may lead to reduced risk of BC.

scholarly journals The association between XRCC3 rs1799794 polymorphism and cancer risk: a meta-analysis of 34 case–control studies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Weiqing Liu ◽  
Shumin Ma ◽  
Lei Liang ◽  
Zhiyong Kou ◽  
Hongbin Zhang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Thyroid Cancer ◽  
Cancer Risk ◽  
Large Scale ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Cancer Type ◽  
Increased Risk ◽  
Risk Of Cancer

Abstract Background Studies on the XRCC3 rs1799794 polymorphism show that this polymorphism is involved in a variety of cancers, but its specific relationships or effects are not consistent. The purpose of this meta-analysis was to investigate the association between rs1799794 polymorphism and susceptibility to cancer. Methods PubMed, Embase, the Cochrane Library, Web of Science, and Scopus were searched for eligible studies through June 11, 2019. All analyses were performed with Stata 14.0. Subgroup analyses were performed by cancer type, ethnicity, source of control, and detection method. A total of 37 studies with 23,537 cases and 30,649 controls were included in this meta-analysis. Results XRCC3 rs1799794 increased cancer risk in the dominant model and heterozygous model (GG + AG vs. AA: odds ratio [OR] = 1.04, 95% confidence interval [CI] = 1.00–1.08, P = 0.051; AG vs. AA: OR = 1.05, 95% CI = 1.00–1.01, P = 0.015). The existence of rs1799794 increased the risk of breast cancer and thyroid cancer, but reduced the risk of ovarian cancer. In addition, rs1799794 increased the risk of cancer in the Caucasian population. Conclusion This meta-analysis confirms that XRCC3 rs1799794 is related to cancer risk, especially increased risk for breast cancer and thyroid cancer and reduced risk for ovarian cancer. However, well-designed large-scale studies are required to further evaluate the results.

Association of APC and MCC Polymorphisms with Increased Breast Cancer Risk in an Indian Population

2011 ◽  
Vol 26 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Nupur Mukherjee ◽  
Nilanjana Bhattacharya ◽  
Satyabrata Sinha ◽  
Neyaz Alam ◽  
Runu Chakravarti ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Signaling Pathway ◽  
Wnt Signaling Pathway ◽  
Minor Allele ◽  
Nucleotide Polymorphisms ◽  
Breast Cancer Patients ◽  
Increased Risk ◽  
Risk Of Cancer

The adenomatous polyposis coli (APC) and mutated in colorectal cancer (MCC) genes are key regulatory genes of the Wnt/β-catenin signaling pathway, which are independently involved in maintaining low levels of β-catenin in the cell. In addition to genetic and epigenetic alterations, some genetic polymorphisms in the genes associated with the Wnt signaling pathway have been reported to be associated with an increased risk of cancer, including breast cancer. In the present study we analyzed the association of genotype and haplotype status of two single nucleotide polymorphisms (SNPs), rs2229992 and rs11283943, in the APC and MCC genes, respectively, with an increased risk of breast carcinogenesis in a breast cancer and control population from eastern India. We observed a significant association of the rs11283943 SNP with increased breast cancer risk. Two specific haplotypes involving the minor allele of rs11283943 were found to be associated with an increased breast cancer risk. Kaplan-Meier curves showed a significant association of the 2–2 genotype (genotype homozygous for the rs11283943 minor allele) with decreased survival (p=0.045) of the breast cancer patients in our study, in particular patients with early-onset BC.

scholarly journals What do women know about breast density? A public screening program perspective

2020 ◽  
Author(s):  
Monique Robertson ◽  
Ellie C Darcey ◽  
Evenda K Dench ◽  
Louise Keogh ◽  
Kirsty McLean ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Density ◽  
Screening Program ◽  
Mammographic Screening ◽  
Descriptive Data ◽  
Additional Information ◽  
Dense Breasts ◽  
Increased Risk ◽  
Main Message ◽  
First Time

AbstractBackgroundThis study assesses knowledge of breast density, one of breast cancer’s strongest risk factors, in women attending a public mammographic screening program in Western Australia that routinely notifies women if they have dense breasts.MethodsSurvey data was collected from women who were notified they have dense breasts and women who had not (controls). Descriptive data analysis was used to summarize responses.ResultsOf the 6183 women surveyed, over 85% of notified women knew that breast density makes it difficult to see cancer on a mammogram (53.9% in controls). A quarter of notified women knew that having dense breasts puts women at increased risk for breast cancer (13.2% in controls). Overall, 50.1% of notified women indicated that they thought the amount of information provided was “just right” and 24.9% thought it was “too little”, particularly women notified for the first time (32.1%).ConclusionThe main message of reduced sensitivity of mammography in women with dense breasts provided by the screening program appears to be getting though. However, women are largely unaware that increased breast density is associated with increased risk. Women notified of having dense breasts for the first time could potentially benefit from additional information.

scholarly journals Osteoarthritis and risk of mortality in the USA: a population-based cohort study

2018 ◽  
Vol 47 (6) ◽  
pp. 1821-1829 ◽  
Author(s):  
Angelico Mendy ◽  
JuYoung Park ◽  
Edgar Ramos Vieira
Keyword(s):  
Proportional Hazards ◽  
Population Based ◽  
Cox Proportional Hazards ◽  
Self Report ◽  
Joint Disease ◽  
Renal Diseases ◽  
X Rays ◽  
Risk Of Mortality ◽  
Increased Risk ◽  
Risk Of Cancer

Abstract Background Osteoarthritis (OA) is the most common joint disease, but its association with mortality is unclear. Methods We analysed data on adult participants in the 1988–94 and 1999–2010 National Health and Nutrition Examination Surveys, followed for mortality through 2011. OA was defined by self-report, and in a subset of participants 60 years or older with knee X-rays, radiographic knee OA (RKOA) was defined as Kellgren–Lawrence score ≥2. Cox proportional hazards were used to determine the mortality hazard ratio (HR) associated with self-reported OA and RKOA, adjusting for covariates. Results The sample included 51 938 participants followed for a median 8.9 years; 2589 of them had knee X-rays and were followed for a median of 13.6 years. Self-reported OA and RKOA prevalences were 6.6% and 40.6%, respectively. Self-reported OA was not associated with mortality. RKOA was associated with an increased risk of mortality from cardiovascular diseases (CVD) {HR 1.43 [95% confidence interval (CI): 1.32, 1.64]}, diabetes [HR 2.04 (1.87, 2.23)] and renal diseases [HR 1.14 (1.04, 1.25)], but with a reduced risk of cancer mortality [HR 0.88 (0.80, 0.96)]. Participants with early RKOA onset (diagnosed before age 40) had a higher risk of mortality from all causes [HR 1.53 (1.43, 1.65)] and from diabetes [HR 7.18 (5.45, 9.45)]. Obese participants with RKOA were at increased risk of mortality from CVD [HR 1.89 (1.56, 2.29)] and from diabetes [HR: 3.42 (3.01, 3.88)]. Conclusions Self-reported OA was not associated with mortality. RKOA was associated with higher CVD, diabetes and renal mortality, especially in people with early onset of the disease or with obesity.

scholarly journals Mortality and Risk of Cancer After Prophylactic Bilateral Oophorectomy in Women With a Family History of Cancer

2018 ◽  
Vol 2 (3) ◽  
Author(s):  
Julie Abildgaard ◽  
Magnus Glindvad Ahlström ◽  
Gedske Daugaard ◽  
Dorte Lisbet Nielsen ◽  
Anette Tønnes Pedersen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Rate Ratio ◽  
Bilateral Oophorectomy ◽  
Family History Of Cancer ◽  
Increased Risk ◽  
History Of ◽  
Risk Of Cancer ◽  
The Impact ◽  
History Of Cancer

Abstract Background Current international guidelines recommend systemic hormone therapy (HT) to oophorectomized women until the age of natural menopause. Despite an inherited predisposition to estrogen-dependent malignancies, the guidelines also apply to women oophorectomized because of a family history of cancer. The objective of this study was to investigate the impact of HT on mortality and risk of cancer in women oophorectomized because of a family history of cancer. Methods A nationwide, population-based cohort was used to study women oophorectomized because of a family history of cancer (n = 2002). Comparison cohorts included women from the background population individually matched on age (n = 18 018). Oophorectomized women were subdivided into three groups: oophorectomized at 1) age 45 years or younger not using HT, 2) age 45 years or younger using HT, 3) older than age 45 years, and their respective population comparison cohorts. Results Women oophorectomized at age 45 years or younger using HT had increased overall mortality (mortality rate ratio [MRR] = 3.45, 95% confidence interval [CI] = 1.53 to 7.79), mortality because of cancer (MRR = 5.67, 95% CI = 1.86 to 17.34), and risk of overall cancer (incidence rate ratio [IRR] = 3.68, 95% CI = 1.93 − 6.98), primarily reflected in an increased risk of breast cancer (IRR = 4.88, 95% CI = 2.19 − 10.68). Women oophorectomized at age 45 years or younger not using HT and women oophorectomized at older than age 45 years did not have increased mortality, mortality because of cancer, or risk of overall cancer, but they had increased risk of breast cancer (IRR = 2.64, 95% CI = 1.14 to 6.13, and IRR = 1.72, 95% CI = 1.14 to 2.59, respectively). Conclusions Use of HT in women oophorectomized at age 45 years or younger with a family history of cancer is associated with increased mortality and risk of overall cancer and breast cancer. Our study warrants further investigation to establish the impact of HT on mortality and cancer risk in oophorectomized women with a family history of cancer.

scholarly journals Cancer Incidence in Patients With Acromegaly: A Cohort Study and Meta-Analysis of the Literature

2018 ◽  
Vol 103 (6) ◽  
pp. 2182-2188 ◽  
Author(s):  
Jakob Dal ◽  
Michelle Z Leisner ◽  
Kasper Hermansen ◽  
Dóra Körmendiné Farkas ◽  
Mads Bengtsen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Colorectal Cancer ◽  
Cohort Study ◽  
Cancer Incidence ◽  
Meta Analysis ◽  
Population Based ◽  
Incidence Rates ◽  
Tract Cancer ◽  
Increased Risk ◽  
Risk Of Cancer

Abstract Context Acromegaly has been associated with increased risk of cancer morbidity and mortality, but research findings remain conflicting and population-based data are scarce. We therefore examined whether patients with acromegaly are at higher risk of cancer. Design A nationwide cohort study (1978 to 2010) including 529 acromegaly cases was performed. Incident cancer diagnoses and mortality were compared with national rates estimating standardized incidence ratios (SIRs). A meta-analysis of cancer SIRs from 23 studies (including the present one) was performed. Results The cohort study identified 81 cases of cancer after exclusion of cases diagnosed within the first year [SIR 1.1; 95% confidence interval (CI), 0.9 to 1.4]. SIRs were 1.4 (95% CI, 0.7 to 2.6) for colorectal cancer, 1.1 (95% CI, 0.5 to 2.1) for breast cancer, and 1.4 (95% CI, 0.6 to 2.6) for prostate cancer. Whereas overall mortality was elevated in acromegaly (SIR 1.3; 95% CI, 1.1 to 1.6), cancer-specific mortality was not. The meta-analysis yielded an SIR of overall cancer of 1.5 (95% CI, 1.2 to 1.8). SIRs were elevated for colorectal cancer, 2.6 (95% CI, 1.7 to 4.0); thyroid cancer, 9.2 (95% CI, 4.2 to 19.9); breast cancer, 1.6 (1.1 to 2.3); gastric cancer, 2.0 (95% CI, 1.4 to 2.9); and urinary tract cancer, 1.5 (95% CI, 1.0 to 2.3). In general, cancer SIR was higher in single-center studies and in studies with <10 cancer cases. Conclusions Cancer incidence rates were slightly elevated in patients with acromegaly in our study, and this finding was supported by the meta-analysis of 23 studies, although it also suggested the presence of selection bias in some earlier studies.

scholarly journals Concurrent manifestations of Horner’s syndrome and esophageal metastasis of breast cancer: case report of a young woman after a period of non-adherence to treatment: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Sumadi Lukman Anwar ◽  
Widya Surya Avanti ◽  
Lina Choridah ◽  
Ery Kus Dwianingsih ◽  
Herjuna Hardiyanto ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Distant Metastasis ◽  
Cervical Vertebrae ◽  
Horner’S Syndrome ◽  
X Rays ◽  
Adherence To Treatment ◽  
Horner's Syndrome ◽  
Esophageal Metastasis ◽  
Increased Risk

Abstract Background Esophageal involvement and Horner’s syndrome are rare manifestations of breast cancer distant metastases that can pose a significant challenge in diagnosis and treatment. In addition to the more aggressive behavior of breast cancer diagnosed in young women, non-adherence to treatment is associated with increased risk of distant metastasis. Case presentation A 36-year-old Javanese woman presented to our institution with dysphagia, hoarseness, and frequent hiccups. In the 6 weeks prior to the current admission, the patient also reported tingling in the neck and shoulder, anhidrosis in the left hemifacial region, and drooping of the upper left eyelid. She was previously managed as tuberculoid laryngitis. Plain X-rays showed burst fractures of the cervical vertebrae and slight pleural effusion. Laryngoscopy revealed bowing of the vocal cords and liquid residue in the vallecula that was reduced upon chin tuck. Esophageal metastasis was confirmed with endoscopy showing thickening of the wall and positive cytology swab with ductal malignant cells. The patient had a history of breast cancer with a period of loss to follow-up of 4 years. Conclusions Physicians should consider potential distant metastasis of breast cancer to the esophagus and sympathetic nervous system of the neck particularly in a high-risk woman with presentation of dysphagia and manifestations of Horner’s syndrome.

Reduced Rate of Infectious Complications Following Bloodless Autologous Peripheral Blood Stem Cell Transplants (APBSCT).

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 5453-5453 ◽  
Author(s):  
Patricia A. Ford ◽  
Barbara A. Matthews ◽  
Nicole M. Brown
Keyword(s):  
Breast Cancer ◽  
High Dose Chemotherapy ◽  
Infectious Complications ◽  
High Dose ◽  
Blood Transfusions ◽  
Risk Of Infection ◽  
Infection Rates ◽  
Autologous Transplants ◽  
Increased Risk ◽  
Risk Of Cancer

Abstract While blood transfusions can be life saving, the associated risk of transfusing allogeneic blood is significant. The most common patient fears are transfusion-transmitted diseases such as HIV, Hepatitis B and C and West Nile Virus; however, the known risk of transmitting these diseases is quite small. More common complications are due to immunosuppression which can cause an increased risk of cancer recurrence in the oncologic patient and a significantly increased risk of infection. In trauma patients, it has been shown that the risk of infection increases with each additional unit of blood transfused. Currently, about 2.2 units of platelets and 3.3 units of red blood cells are administered following high-dose chemotherapy and an APBSCT. At the Center for Bloodless Medicine and Surgery at Pennsylvania Hospital, many procedures are now being completed without the use of blood products. We have previously reported the ability to perform bloodless APBSCT (Ballen, et al. J Clin Oncol2004;22:4087-4094). Knowing that blood transfusions can increase the risk of infection, we wanted to evaluate this transfusion-free population to determine if there was a correlation between infection rates and blood transfusions in the high risk transplant population. We performed a retrospective chart review of 46 patients with multiple myeloma (22), lymphoma (22) and breast cancer (2) who underwent a bloodless APBSCT in our center. Prior to transplantation, all patients recieved standard transplant doses of cyclophosphamide, carmustine and etoposide (BCV) or Melphalan. A PubMed search was performed and the closest data set in terms of patient demographics was a study by Pereira, et al. who report the rate of infectious complications in 75 patients with myeloma (30), lymphoma (30) and breast cancer (15) who were transfused liberally following high-dose chemotherapy and APBSCT (Pereira, et al. Eur J Haematol2006;76:102-108). In our bloodless patients, 37% of the patients had at least one infection, compared to Pereira and colleagues’ rate of 68% (see table). Our results are also reported in the average number of infections per patient. This comparison demonstrates a substantial reduction in the rate of infection in the bloodless population. While immunosuppression and the resulting increased infection rates have been correlated to blood transfusions in other patients populations, to the best of our knowledge this is the first report that suggests decreased infection rates in transfusion-free transplant patients. This data provides further evidence to support the practice of blood management strategies in order to reduce or eliminate blood transfusions. Patients with at least one infection All infections per person Bacterial per person Viral per person Fungal per person Unknown per person Autologous Transplants (Pereira, et al.) 68% .64 .53 .01 .07 .03 Bloodless Autologous Transplants 37% .41 .39 0 0 .02

scholarly journals Morbidity and mortality in patients with hyperprolactinaemia: the PROLEARS study

2017 ◽  
Vol 6 (8) ◽  
pp. 580-588 ◽  
Author(s):  
Enrique Soto-Pedre ◽  
Paul J Newey ◽  
John S Bevan ◽  
Graham P Leese
Keyword(s):  
Breast Cancer ◽  
Cardiovascular Disease ◽  
Bone Fractures ◽  
Morbidity And Mortality ◽  
Serum Prolactin ◽  
Matched Cohort ◽  
Pituitary Tumours ◽  
Drug Induced ◽  
Increased Risk ◽  
Risk Of Cancer

Purpose High serum prolactin concentrations have been associated with adverse health outcomes in some but not all studies. This study aimed to examine the morbidity and all-cause mortality associated with hyperprolactinaemia. Methods A population-based matched cohort study in Tayside (Scotland, UK) from 1988 to 2014 was performed. Record-linkage technology was used to identify patients with hyperprolactinaemia that were compared to an age–sex-matched cohort of patients free of hyperprolactinaemia. The number of deaths and incident admissions with diabetes mellitus, cardiovascular disease, cancer, breast cancer, bone fractures and infectious conditions were compared by the survival analysis. Results Patients with hyperprolactinaemia related to pituitary tumours had no increased risk of diabetes, cardiovascular disease, bone fractures, all-cause cancer or breast cancer. Whilst no increased mortality was observed in patients with pituitary microadenomas (HR = 1.65, 95% CI: 0.79–3.44), other subgroups including those with pituitary macroadenomas and drug-induced and idiopathic hyperprolactinaemia demonstrated an increased risk of death. Individuals with drug-induced hyperprolactinaemia also demonstrated increased risks of diabetes, cardiovascular disease, infectious disease and bone fracture. However, these increased risks were not associated with the degree of serum prolactin elevation (Ptrend > 0.3). No increased risk of cancer was observed in any subgroup. Conclusions No excess morbidity was observed in patients with raised prolactin due to pituitary tumours. Although the increased morbidity and mortality associated with defined patient subgroups are unlikely to be directly related to the elevation in serum prolactin, hyperprolactinaemia might act as a biomarker for the presence of some increased disease risk in these patients.

Sign in / Sign up

Export Citation Format

Share Document