Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families

Henningson, Maria; Bågeman, Erika; Sandberg, Torsten; Borg, Åke; Olsson, Håkan; Jernström, Helena

doi:10.1007/s10689-007-9141-0

Cited by 6 publications

(5 citation statements)

References 30 publications

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“…Different alleles of IGF1 have been shown to be coinherited in disequilibrium with mutations in BRCA1 . Absence of the common IGF1 allele lacking the 19‐cytosine‐adenine (CA) repeat was significantly more common among BRCA1 mutation carriers compared with their nonmutation carrying relatives in the South Swedish Health Care region (Henningson et al, ). Higher IGF1 levels have been reported in women that were ever users of OCP and were homozygous for the IGF1 allele lacking the 19CA repeat compared with women that had at least one IGF1 allele containing the 19CA repeat (Jernström et al, ).…”

Section: Discussionmentioning

confidence: 99%

Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort

Ellberg

Jernström

Broberg

et al. 2014

Genes Chromosomes & Cancer

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Three studies have reported that BRCA1/2 mutations of paternal origin confer an earlier age at breast cancer diagnosis compared with maternal origin. The primary aim of this study was to investigate the impact of parental origin of BRCA1/2 mutations on age at breast and ovarian cancer diagnosis. This study included 577 female BRCA1/2 mutation carriers. All BRCA1/2 mutation carriers belonged to families registered between 1993 and 2011 at the Oncogenetic Clinic at Skånes University Hospital, Lund, Sweden. Cox proportional hazard ratios were used to analyze time to breast or ovarian cancer diagnosis. A novel finding was that carriers of BRCA1 mutations of paternal origin were 4 years older at age of ovarian cancer (P = 0.009) compared with those carrying a BRCA1 mutation of maternal origin. BRCA1 carriers with mutations of paternal origin were 4 years younger at breast cancer diagnosis (P = 0.017) compared with those carrying a BRCA1 mutation of maternal origin, which is in agreement with three previous studies. Both findings were adjusted for of year of inclusion, birth date, and oral contraceptive pill use. No associations between parental origin of BRCA2 mutations and time to breast or ovarian cancer diagnosis were found. An attempt to handle a potential selection bias regarding use of oral contraceptives was made using multiple imputations by chained equations. The observed age difference may allow a greater understanding of mechanisms associated with the differences in cancer penetrance in BRCA1/2 mutation carriers, some of which may depend on paternal origin.

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Section: Discussionmentioning

confidence: 99%

Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort

Ellberg

Jernström

Broberg

et al. 2014

Genes Chromosomes & Cancer

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“…IGF-1 is also important for intrauterine growth and BRCA1 mutation carriers have been reported to be smaller than noncarriers from BRCA1 mutation families [16], which further supports a link between BRCA1 and IGF-1. Moreover, we have previously reported an association between absence of the common IGF1 19 CA-repeat polymorphism and BRCA1 mutation status [17]. Absence of the 19 CA-repeat has been associated with increased premenopausal breast cancer risk [7,8].…”

Section: Introductionmentioning

confidence: 89%

IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer

et al. 2010

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“…Moreover, the IGF-1/IGF-1 receptor axis has also been shown to be involved in the increased risk of early-onset breast cancers in women with mutations in the Breast Cancer Susceptibility gene ( BRCA1 ). [5-7]. Germline mutations in BRCA1 have been detected in approximately half of human familial breast cancer cases [8,9].…”

Section: Resultsmentioning

confidence: 99%

Comparison of Radioimmuno and Carbon Nanotube Field-Effect Transistor Assays for Measuring Insulin-Like Growth Factor-1 in a Preclinical Model of Human Breast Cancer

Jones

Stefansson²,

Kim³

et al. 2011

Journal of Nanobiotechnology

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BackgroundTo realize the promise of personalized medicine, diagnostic instruments used for detecting and measuring biomarkers must become smaller, faster and less expensive. Although most techniques used currently to detect biomarkers are sensitive and specific, many suffer from several disadvantages including their complexity, high cost and long turnaround time. One strategy to overcome these problems is to exploit carbon nanotube (CNT) based biosensors, which are sensitive, use inexpensive disposable components and can be easily adapted to current assay protocols. In this study we investigated the applicability of using a CNT field-effect transistor (CNT-FET) as a diagnostic instrument for measuring cancer biomarkers in serum using a mouse model of Breast Cancer Susceptibility 1-related breast cancer. Insulin like growth factor-1 (IGF-1) was chosen because it is highly relevant in breast cancer and because measuring serum IGF-1 levels by conventional methods is complicated due to specific IGF-1 serum binding proteins.FindingsOur results show that there is good correlation between the two platforms with respect to detecting serum IGF-1. In fact, the CNT-FETs required only one antibody, gave real-time results and required approximately 100-fold less mouse serum than the radioimmunoassay.ConclusionsBoth IGF-1 radioimmuno and CNT-FET assays gave comparable results. Indeed, the CNT-FET assay was simpler and faster than the radioimmunoassay. Additionally, the low serum sample required by CNT-FETs can be especially advantageous for studies constricted by limited amount of human clinical samples and for mouse studies, since animals often need to be sacrificed to obtain enough serum for biomarker evaluation.

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Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families

Cited by 6 publications

References 30 publications

Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort

Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort

IGF1 htSNPs in relation to IGF-1 levels in young women from high-risk breast cancer families: implications for early-onset breast cancer

Comparison of Radioimmuno and Carbon Nanotube Field-Effect Transistor Assays for Measuring Insulin-Like Growth Factor-1 in a Preclinical Model of Human Breast Cancer

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