Browsing Genetics and Epidemiology by author "Schoemaker, Minouk"
Now showing items 41-60 of 64
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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.
Zeng, C; Guo, X; Long, J; Kuchenbaecker, KB; Droit, A; et al. (BMC, 2016-06-21)BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale ... -
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; et al. (NATURE PORTFOLIO, 2017-12-01)Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ... -
Impact of atopy on risk of glioma: a Mendelian randomisation study.
Disney-Hogg, L; Cornish, AJ; Sud, A; Law, PJ; Kinnersley, B; et al. (BMC, 2018-03-15)BACKGROUND: An inverse relationship between allergies with glioma risk has been reported in several but not all epidemiological observational studies. We performed an analysis of genetic variants associated with atopy to ... -
Length of FMR1 repeat alleles within the normal range does not substantially affect the risk of early menopause.
Ruth, KS; Bennett, CE; Schoemaker, MJ; Weedon, MN; Swerdlow, AJ; et al. (OXFORD UNIV PRESS, 2016-10-01)STUDY QUESTION: Is the length of FMR1 repeat alleles within the normal range associated with the risk of early menopause? SUMMARY ANSWER: The length of repeat alleles within the normal range does not substantially affect ... -
Maternal breast cancer risk in relation to birthweight and gestation of her offspring.
Swerdlow, AJ; Wright, LB; Schoemaker, MJ; Jones, ME (BMC, 2018-10-05)BACKGROUND: Parity and age at first pregnancy are well-established risk factors for breast cancer, but the effects of other characteristics of pregnancies are uncertain and the literature is inconsistent. METHODS: In a ... -
Mendelian randomisation study of smoking exposure in relation to breast cancer risk.
Park, HA; Neumeyer, S; Michailidou, K; Bolla, MK; Wang, Q; et al. (SPRINGERNATURE, 2021-10-12)BACKGROUND: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. METHODS: ... -
Mendelian randomisation study of the relationship between vitamin D and risk of glioma.
Takahashi, H; Cornish, AJ; Sud, A; Law, PJ; Kinnersley, B; et al. (NATURE PORTFOLIO, 2018-02-05)To examine for a causal relationship between vitamin D and glioma risk we performed an analysis of genetic variants associated with serum 25-hydroxyvitamin D (25(OH)D) levels using Mendelian randomisation (MR), an approach ... -
Menopausal hormone therapy and breast cancer: what is the true size of the increased risk?
Jones, ME; Schoemaker, MJ; Wright, L; McFadden, E; Griffin, J; et al. (NATURE PUBLISHING GROUP, 2016-08-23)BACKGROUND: Menopausal hormone therapy (MHT) increases breast cancer risk; however, most cohort studies omit MHT use after enrolment and many infer menopausal age. METHODS: We used information from serial questionnaires ... -
Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.
Schoemaker, MJ; Jones, ME; Higgins, CD; Wright, AF; United Kingdom Clinical Cytogenetics Group,; et al. (OXFORD UNIV PRESS INC, 2019-03-01)A balanced robertsonian translocation (rob) results from fusion of 2 acrocentric chromosomes. Carriers are phenotypically normal and are often diagnosed because of recurrent miscarriages, infertility, or aneuploid offspring. ... -
Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study.
Schoemaker, MJ; Jones, ME; Higgins, CD; Wright, AF; UK Clinical Cytogenetics Group,; et al. (WILEY, 2019-09-15)The constitutional t(11;22)(q23;q11) translocation is the only recurrent non-Robertsonian translocation known in humans. Carriers are phenotypically normal and are usually referred for cytogenetic testing because of multiple ... -
Night shift work and risk of breast cancer in women: the Generations Study cohort.
Jones, ME; Schoemaker, MJ; McFadden, EC; Wright, LB; Johns, LE; et al. (NATURE PUBLISHING GROUP, 2019-07-16)BACKGROUND: It is plausible that night shift work could affect breast cancer risk, possibly by melatonin suppression or circadian clock disruption, but epidemiological evidence is inconclusive. METHODS: Using serial ... -
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2,; Hollestelle, A; van der Baan, FH; Berchuck, A; Johnatty, SE; et al. (ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016-05-01)OBJECTIVE: Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer ... -
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
Mavaddat, N; Michailidou, K; Dennis, J; Lush, M; Fachal, L; et al. (CELL PRESS, 2019-01-03)Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ... -
Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups.
Abubakar, M; Orr, N; Daley, F; Coulson, P; Ali, HR; et al. (BIOMED CENTRAL LTD, 2016-10-18)BACKGROUND: The value of KI67 in breast cancer prognostication has been questioned due to concerns on the analytical validity of visual KI67 assessment and methodological limitations of published studies. Here, we investigate ... -
Psychological stress, adverse life events and breast cancer incidence: a cohort investigation in 106,000 women in the United Kingdom.
Schoemaker, MJ; Jones, ME; Wright, LB; Griffin, J; McFadden, E; et al. (BIOMED CENTRAL LTD, 2016-07-15)BACKGROUND: Women diagnosed with breast cancer frequently attribute their cancer to psychological stress, but scientific evidence is inconclusive. We investigated whether experienced frequency of stress and adverse life ... -
Risk of breast cancer in men in relation to weight change: A national case-control study in England and Wales.
Swerdlow, AJ; Bruce, C; Cooke, R; Coulson, P; Schoemaker, MJ; et al. (WILEY, 2022-06-01)Breast cancer is uncommon in men and knowledge about its causation limited. Obesity is a risk factor but there has been no investigation of whether weight change is an independent risk factor, as it is in women. In a ... -
Smoking and risk of breast cancer in the Generations Study cohort.
Jones, ME; Schoemaker, MJ; Wright, LB; Ashworth, A; Swerdlow, AJ (BMC, 2017-11-22)BACKGROUND: Plausible biological reasons exist regarding why smoking could affect breast cancer risk, but epidemiological evidence is inconsistent. METHODS: We used serial questionnaire information from the Generations ... -
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, MT; et al. (WILEY, 2018-05-01)Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ... -
The Premenopausal Breast Cancer Collaboration: A Pooling Project of Studies Participating in the National Cancer Institute Cohort Consortium.
Nichols, HB; Schoemaker, MJ; Wright, LB; McGowan, C; Brook, MN; et al. (AMER ASSOC CANCER RESEARCH, 2017-09-01)Breast cancer is a leading cancer diagnosis among premenopausal women around the world. Unlike rates in postmenopausal women, incidence rates of advanced breast cancer have increased in recent decades for premenopausal ... -
Timing of pubertal stages and breast cancer risk: the Breakthrough Generations Study.
Bodicoat, DH; Schoemaker, MJ; Jones, ME; McFadden, E; Griffin, J; et al. (BIOMED CENTRAL LTD, 2014-02-04)INTRODUCTION: Breast development and hormonal changes at puberty might affect breast cancer risk, but epidemiological analyses have focussed largely on age at menarche and not at other pubertal stages. METHODS: We investigated ...