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Search Results: 1 - 10 of 1207 matches for " the SEARCH breast cancer study "
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Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk
Caroline Baynes, Catherine S Healey, Karen A Pooley, Serena Scollen, Robert N Luben, Deborah J Thompson, Paul DP Pharoah, Douglas F Easton, Bruce AJ Ponder, Alison M Dunning, the SEARCH breast cancer study
Breast Cancer Research , 2007, DOI: 10.1186/bcr1669
Abstract: We have attempted a comprehensive, single nucleotide polymorphism (SNP)- and haplotype-tagging association study on each of these five genes in up to 4,474 breast cancer cases from the British, East Anglian SEARCH study and 4,560 controls from the EPIC-Norfolk study, using a two-stage study design. Nine tag SNPs were genotyped in ATM, together with five in BRCA1, sixteen in BRCA2, ten in CHEK2 and five in TP53, with the aim of tagging all other known, common variants. SNPs generating the common amino acid substitutions were specifically forced into the tagging set for each gene.No significant breast cancer associations were detected with any individual or combination of tag SNPs.It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.Four of the genes which lie in the DNA damage-recognition and repair pathway, ATM, BRCA1, BRCA2 and TP53, have mutations that are recognised to increase breast cancer susceptibility with moderate to high penetrance. Such mutations are very rare, and most probably of recent origin. A fifth gene, CHEK2, in the same pathway, has a deletion (1100delC) that reaches polymorphic frequencies (>0.01) in some European countries and doubles the risk of breast cancer in female carriers [1]. Together these mutations account for only a small proportion (2% to 5%) of all breast cancer incidences [2,3]. Breast cancer is, however, a common disease and genetic epidemiological data suggest that there is a low-penetrance genetic contribution to most cases [4,5]. It is likely that at least a part of breast cancer aetiology will fit the common disease-common variant hypothesis, which states that patients with a common, complex disease are likely to share some common, low-penetrance alleles that increase their susceptibility to that disease. This raises the question of whether such common, polymorphic susceptibility alleles exist within these five genes in addition t
Clinical trial update: International Breast Cancer Study Group
Karen N Price, Aron Goldhirsch, the International Breast Cancer Study Group
Breast Cancer Research , 2005, DOI: 10.1186/bcr1334
Abstract: The International Breast Cancer Study Group (IBCSG) opened its first generation of trials in 1978. The IBCSG includes both participating cooperative groups and individual institutions from all over the world. The groups are from Switzerland (Swiss Group for Clinical Cancer Research, 38 centers), Sweden (West Sweden Breast Cancer Study Group, 11 centers), Australia and New Zealand (Australian New Zealand Breast Cancer Trials Group, 56 centers), and Chile (GOCCHI, a Chilean cooperative group, 23 centers). Individual centers are located in Italy (14 centers), Slovenia, Hungary (2 centers), Spain, Romania, Austria, United Kingdom, Belgium (2 centers), Brazil, Peru, Hong Kong, India, South Africa (2 centers), and Canada.The IBCSG is conducting trials of tailored treatment approaches for these subpopulations: patients with endocrine non-responsive early breast cancer; older patients with endocrine non-responsive early breast cancer who are not candidates for standard chemotherapy regimens; and younger patients with endocrine responsive early breast cancer. Because each of these three populations is somewhat rare, treatment decisions tend to be based on the findings from the largest breast cancer population: middle-aged (median age 55) women with endocrine responsive breast cancer (i.e. estrogen receptor-positive and/or progesterone receptor-positive) who were included in trials of chemotherapy and of endocrine therapy across the board. Through subgroup analyses of these large heterogeneous trials we have identified distinct responsiveness features, and the current generation of IBCSG trials investigates treatments tailored to populations based on these features (Table 1). Examples of such trials are described below.The CM-Maintenance Trial (IBCSG 22-00) studies a tailored chemotherapy approach for patients with endocrine non-responsive tumors. The role of prolonged, low-dose chemotherapy after a standard adjuvant chemotherapy regimen to reduce the risk of relapse and impr
How do women at increased, but unexplained, familial risk of breast cancer perceive and manage their risk? A qualitative interview study
Louise A Keogh, Belinda J McClaren, Carmel Apicella, John L Hopper, the Australian Breast Cancer Family Study
Hereditary Cancer in Clinical Practice , 2011, DOI: 10.1186/1897-4287-9-7
Abstract: Participants were recruited from a population-based sample (the Australian Breast Cancer Family Study - ABCFS). The ABCFS includes women diagnosed with breast cancer and their relatives. For this study, women without breast cancer with at least one first- or second-degree relative diagnosed with breast cancer before age 50 were eligible unless a BRCA1 or BRCA2 mutation had been identified in their family. Data collection consisted of an audio recorded, semi-structured interview on the topic of breast cancer risk and screening decision-making. Data was analysed thematically.A total of 24 interviews were conducted, and saturation of the main themes was achieved. Women were classified into one of five groups: don't worry about cancer risk, but do screening; concerned about cancer risk, so do something; concerned about cancer risk, so why don't I do anything?; cancer inevitable; cancer unlikely.The language and framework women use to describe their risk of breast cancer must be the starting point in attempts to enhance women's understanding of risk and their prevention behaviour.It has been argued that health and risk have replaced illness and disease as the domains of interest for medicine [1,2]. 'The focus is no longer on illness, disability, and disease as matters of fate, but on health as a matter of ongoing moral self-transformation' [1, p172]. Women who have not had breast cancer, but who have a high familial risk of the disease, are a pertinent example of this phenomenon. While they may be physically well, the risk of breast cancer is likely to be a focus of their health care and practice, and there are proven interventions that decrease breast cancer incidence for women at high risk [3-5]. Genetic testing for a disease-predisposing mutation can provide a risk estimate and appropriate risk reduction options can be recommended for women from families in which a mutation is found, but for women from families in which no mutation has been identified this clarity and
The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer
William Tapper, Victoria Hammond, Sue Gerty, Sarah Ennis, Peter Simmonds, Andrew Collins, the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) Steering Group, Diana Eccles
Breast Cancer Research , 2008, DOI: 10.1186/bcr2213
Abstract: We selected 1,001 women with early onset nonfamilial invasive breast cancer from the Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) cohort and genotyped 206 single nucleotide polymorphisms (SNPs) across 30 candidate genes. After quality control, 899 cases and 133 SNPs remained. Survival analyses were used to identify SNPs associated with prognosis and determine their interdependency with recognized prognostic factors. To identify SNPs that alter breast cancer risk, association tests were used to compare cases with controls from the Wellcome Trust Case Control Consortium. To search for SNPs affecting tumour biology, cases were stratified into subgroups according to oestrogen receptor (ER) status and grade and tested for association.We confirmed previous associations between increased breast cancer risk and SNPs in CASP8, TOX3 (previously known as TNRC9) and ESR1. Analysis of prognosis identified eight SNPs in six genes (MAP3K1, DAPK1, LSP1, MMP7, TOX3 and ESR1) and one region without genes on 8q24 that are associated with survival. For MMP7, TOX3 and MAP3K1 the effects on survival are independent of the main recognized clinical prognostic factors. The SNP in 8q24 is more weakly associated with independent effects on survival. Once grade and pathological nodal status (pN stage) were taken into account, SNPs in ESR1 and LSP1 showed no independent survival difference, whereas the effects of the DAPK1 SNP were removed when correcting for ER status. Interestingly, effects on survival for SNPs in ESR1 were most significant when only ER-positive tumours were examined. Stratifying POSH cases by tumour characteristics identified SNPs in FGFR2 and TOX3 associated with ER-positive disease and SNPs in ATM associated with ER-negative disease.We have demonstrated that several SNPs are associated with survival. In some cases this appears to be due to an effect on tumour characteristics known to have a bearing on prognosis; in other cases the effect
Interpreting breast international group (BIG) 1-98: a randomized, double-blind, phase III trial comparing letrozole and tamoxifen as adjuvant endocrine therapy for postmenopausal women with hormone receptor-positive, early breast cancer
Meredith M Regan, Karen N Price, Anita Giobbie-Hurder, Beat Thürlimann, Richard D Gelber, for the International Breast Cancer Study Group and BIG 1-98 Collaborative Group
Breast Cancer Research , 2011, DOI: 10.1186/bcr2837
Abstract: Clinicaltrials.gov ID: NCT00004205.Reports of large trials of breast cancer confirm the value of aromatase inhibitors as adjuvant systemic therapy for postmenopausal women with endocrine-responsive early breast cancer [1-9]. The inclusion of an aromatase inhibitor in the adjuvant treatment program for this population has been recommended by both the American Society of Clinical Oncology and St. Gallen guidelines [10,11]. Studies have shown that 5 years of adjuvant therapy with an aromatase inhibitor alone improved disease-free survival (DFS) and time to distant recurrence (TDR) in comparison with 5 years of tamoxifen in this population [1-3,12], and recently the Breast International Group (BIG) 1-98 trial showed improved overall survival (OS) with the aromatase inhibitor letrozole [13]. Other studies have shown that switching to an aromatase inhibitor after 2 years of tamoxifen improves outcome [4-8]. Results were confirmed in an overview analysis [9].The BIG 1-98 study is a double-blind, four-arm trial comparing 5 years of monotherapy with tamoxifen or with letrozole or with sequences of 2 years of one of these agents followed by 3 years of the other (Figure 1). Centers participated in one of two randomization options (two-arm or four-arm). Between 1998 and 2003, 8,010 patients were enrolled. The trial is designed to answer two questions concerning how best to use endocrine agents for the treatment of early breast cancer in postmenopausal women with hormone receptor-positive tumors, the first to compare letrozole monotherapy with tamoxifen monotherapy and the second to determine the benefit of letrozole in sequence with tamoxifen. Table 1 presents a summary of the study subpopulations contributing to various data analyses of efficacy questions. In BIG 1-98, the primary endpoint is DFS, defined as the time from random assignment to the earliest time of invasive recurrence in local, regional, or distant sites; a new invasive breast cancer in the contralateral breast;
Hormone Replacement Therapy after Prophylactic Adnexectomy
Pascale This, Rémy J Salmon, Sylvie Dolbeault, Anne de la Rochefordière, Brigitte Sigal-Zafrani, Dominique Stoppa-Lyonnet, the Institut Curie Breast and Ovarian Cancer Risk Study Group
Hereditary Cancer in Clinical Practice , 2005, DOI: 10.1186/1897-4287-3-4-181
Abstract: At the Curie Institute, we take into account the preferences of women after they have been thoroughly informed:1. We recommend PA to women at 40 years of age if they have a BRCA1 mutation, or a BRCA2 mutation and a family history of ovarian cancer, and at 50 years of age if they have a BRCA2 mutation without a family history of ovarian cancer.2. In women unaffected by breast cancer, we give very complete information on the benefits and risks of HRT and alternatives, such as symptomatic treatments for hot flushes, vaginal oestrogens, and non-hormonal treatment for osteoporosis.3. We always propose psychological support to allow each woman to estimate and anticipate the consequences of PA.4. In case of uterine diseases such as fibroma, surgeons may propose a hysterectomy as well as PA, in which case oestrogens can be prescribed alone and progestins can be avoided (4).5. After PA, a gynaecological consultation is offered: HRT is given only to thoroughly informed women who really want it and have accepted PA with the assurance that they would have HRT afterwards. HRT is also offered to women who have had a prophylactic bilateral mastectomy. For other cases, clinical follow-up is proposed, and osteodensitometry is prescribed. If menopausal problems occur, alternative treatments are proposed first. For persistent problems, HRT is prescribed at the lowest dose for as long as the woman wishes. It is strongly recommended that treatment be stopped at the natural age of menopause, around 50 years of age.We think that over-alarmist information on menopause and strongly held beliefs against HRT lead some young women to refuse or delay an intervention that may save their life. Therefore, we advocate clear information, honest dialogue, and shared decision making with each woman.
Exploring cancer register data to find risk factors for recurrence of breast cancer – application of Canonical Correlation Analysis
Amir R Razavi, Hans Gill, Olle St?l, Marie Sundquist, Sten Thorstenson, Hans ?hlfeldt, Nosrat Shahsavar, the South-East Swedish Breast Cancer Study Group
BMC Medical Informatics and Decision Making , 2005, DOI: 10.1186/1472-6947-5-29
Abstract: One essential outcome after breast cancer treatment is recurrence of the disease. It is important to understand the relationship between different predictors and recurrence, including the time interval until recurrence. This study describes the application of CCA to find important predictors for two different outcomes for breast cancer patients, loco-regional recurrence and occurrence of distant metastasis and to decrease the number of variables in the sets of predictors and outcomes without decreasing the predictive strength of the model.Data for 637 malignant breast cancer patients admitted in the south-east region of Sweden were analyzed. By using CCA and looking at the structure coefficients (loadings), relationships between tumor specifications and the two outcomes during different time intervals were analyzed and a correlation model was built.The analysis successfully detected known predictors for breast cancer recurrence during the first two years and distant metastasis 2–4 years after diagnosis. Nottingham Histologic Grading (NHG) was the most important predictor, while age of the patient at the time of diagnosis was not an important predictor.In cancer registers with high dimensionality, CCA can be used for identifying the importance of risk factors for breast cancer recurrence. This technique can result in a model ready for further processing by data mining methods through reducing the number of variables to important ones.Breast cancer is the most common type of cancer diagnosed in women in Western countries. Sweden has had a high incidence of breast cancer for several decades, although mortality rates have been lower than in most other Western countries [1].Breast cancer prognosis is influenced by many factors such as morphological and pathological tumor specifications and biological tumor markers. Studying these predictors and finding those of most importance can give clinicians better insight regarding the prognosis.As a rule, data on cancer patients h
PRACTICE POINTS: Breast cancer guidelines for Uganda
The Uganda Breast Cancer Working Group
African Health Sciences , 2003,
Abstract: INTRODUCTION Breast cancer in Uganda is the third commonest cancer in women coming only next to cancer of the cervix and Kaposi's sarcoma. The incidence of breast cancer in Uganda has doubled from 11:100,000 in 1961 to 22:100,000 in 1995. Unfortunately the cases are often seen in late stages thus the outcome of treatment is inevitably unsatisfactory. The present day knowledge of this disease does not have any effective primary prevention. It is thus imperative that efforts should be made to detect the disease in its early stages. Mammography has been found to be useful but it is not applicable as a means of mass screening in Uganda (there are only 2 mammography units in Uganda. Public education towards Breast Self Examination (BSE) should be propagated because it is practical and affordable. African Health Sciences 2003 3(1); 47-52
The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia
Anna Marsh, Amanda B Spurdle, Bruce C Turner, Sian Fereday, Heather Thorne, Gulietta M Pupo, Graham J Mann, John L Hopper, Joseph F Sambrook, Georgia Chenevix-Trench, Australian Breast Cancer Family Study (ABCFS) and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFaB)
Breast Cancer Research , 2001, DOI: 10.1186/bcr319
Abstract: We genotyped 71 familial breast cancer patients and 143 control individuals for the G13964C variant using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis.Three (4.2%; 95% confidence interval [CI] 0–8.9%) G13964C heterozygotes were identified. The variant was also identified in 5 out of 143 (3.5%; 95% CI 0.6–6.4%) control individuals without breast cancer or a family history of breast cancer, however, which is no different to the proportion found in familial cases (P = 0.9).The present study would have had 80% power to detect an odds ratio of 4.4, and we therefore conclude that the G13946C polymorphism is not a 'high-risk' mutation for familial breast cancer.Mutations in BRCA1 and BRCA2 account for approximately 50% of breast/ovarian cancer pedigrees with more than four affected cases [1], whereas mutations in PTEN [2], CHK2 [3] and ATM [4] have been reported in a small number of breast cancer families or women with early onset breast cancer. In addition, germ line missense mutations in the p53 gene are associated with Li Fraumeni syndrome, a feature of which is early onset breast cancer [5]. The p53 gene is the most commonly mutated gene in human malignancies and has many important biological functions, including the control of cell cycle checkpoint after DNA damage. Deleterious germ line mutations in the p53 gene are found in less than 1% of all breast cancer patients, suggesting that the contribution of exonic mutations to familial breast cancer risk is small [6,7,8,9,10]. However, mutations in regulatory regions of the gene may affect p53 expression and thereby increase the risk of disease.One candidate for such a mutation is the G13964C variant in intron 6 of the p53 gene, which has been reported in 3 out of 42 patients with hereditary breast cancer (including a CC homozygote affected at age 59 years) but in none of 171 sporadic breast cancer patients (P = 0.0003) [11]. All three patients with the p53 variant had strong f
Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Joanne Kotsopoulos, Jan Lubinski, Leonardo Salmena, Henry T Lynch, Charmaine Kim-Sing, William D Foulkes, Parviz Ghadirian, Susan L Neuhausen, Rochelle Demsky, Nadine Tung, Peter Ainsworth, Leigha Senter, Andrea Eisen, Charis Eng, Christian Singer, Ophira Ginsburg, Joanne Blum, Tomasz Huzarski, Aletta Poll, Ping Sun, Steven A Narod, the Hereditary Breast Cancer Clinical Study Group
Breast Cancer Research , 2012, DOI: 10.1186/bcr3138
Abstract: We conducted a case-control study of 1,665 pairs of women with a deleterious mutation in either BRCA1 (n = 1,243 pairs) or BRCA2 (n = 422 pairs). Breast cancer cases and unaffected controls were matched on year of birth, mutation status, country of residence and parity. Information about reproductive factors, including breastfeeding for each live birth, was collected from a routinely administered questionnaire. Conditional logistic regression was used to estimate the association between ever having breastfed, as well as total duration of breastfeeding, and the risk of breast cancer.Among BRCA1 mutation carriers, breastfeeding for at least one year was associated with a 32% reduction in risk (OR = 0.68; 95% CI 0.52 to 0.91; P = 0.008); breastfeeding for two or more years conferred a greater reduction in risk (OR = 0.51; 95% CI 0.35 to 0.74). Among BRCA2 mutation carriers, there was no significant association between breastfeeding for at least one year and breast cancer risk (OR = 0.83; 95% CI 0.53 to 1.31; P = 0.43).These data extend our previous findings that breastfeeding protects against BRCA1-, but not BRCA2-associated breast cancer. BRCA mutation carriers should be advised of the benefit of breastfeeding in terms of reducing breast cancer risk.In the general population, reproductive factors, including late age at menarche, parity and breastfeeding, have been shown to protect against the development of breast cancer [1-3]. Various proposed mechanisms include reducing lifetime exposure to ovarian hormones, reducing the cumulative number of ovulatory cycles and differentiation of the breast lobules [4,5]. We and others have evaluated the impact of reproductive factors in the etiology of BRCA-associated breast cancer, although the results are conflicting and vary by BRCA1 or BRCA2 mutation [6-8]. With respect to breastfeeding and breast cancer risk in BRCA1 mutation carriers, two previous studies reported no relationship [9,10] and three studies reported a protectiv
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