Familial Cancer

, Volume 6, Issue 4, pp 445–452 | Cite as

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

  • Maria Henningson
  • Erika Bågeman
  • Therese Sandberg
  • Åke Borg
  • Håkan Olsson
  • Helena JernströmEmail author


BRCA1 mutations predispose to early-onset breast cancer. We previously reported an association between absence of the common IGF1 19 CA-repeat allele (IGF1-19/-19) and being a BRCA1 mutation carrier in young women from breast cancer high-risk families. Others have reported a four-fold risk of premenopausal breast cancer in women with a family history and the IGF1-19/-19 genotype. The aim of this study was to investigate whether the IGF1-19/-19 genotype was associated with being a BRCA1 mutation carrier among women from BRCA1 families. DNA was available from 268 women with known BRCA1 status from the South Swedish Health Care Region. IGF1 genotyping was successfully performed with fragment analysis in 211 women from 96 families. The IGF1-19/-19 genotype was significantly more common among BRCA1 mutation carriers (14.2%) than among non-carriers (4.8%), OR 3.3 (95%CI 1.11–9.78, = 0.03) adjusted for family clustering. We confirmed our previous finding of an association between the IGF1-19/-19 genotype and BRCA1 mutation status. Since the IGF1-19/-19 genotype in combination with OC use or multiparity confers an increased risk for early onset breast cancer in high-risk women and in women from the general population, future studies are needed to elucidate the importance of the IGF1-19/-19 genotype concerning the variability in breast cancer risk among BRCA1 mutation carriers.


BRCA1 Breast cancer Genotype IGF1 Oral contraceptive Parity 



Breast cancer gene 1


Breast cancer gene 2




Confidence interval


Deoxyribonucleic acid


Growth hormone receptor


Insulin-like growth factor-1 gene


Insulin-like growth factor-1


Insulin-like growth factor-1 receptor


IGF acid labile subunit


IGF binding protein 2


Insulin receptor substrate 1


Oral contraceptive


Odds ratio



This study was supported by grants from the Grönbergska Foundation (The Swedish Research Council, K2001-27GX-14120-01A), the Medical Faculty in Lund, the Mrs. Berta Kamprad’s Foundation, the Gunnar Nilsson Foundation, the South Swedish Health Care Region (Region Skåne), The Swedish Cancer Society and the Lund Hospital Fund. Helena Jernström’s position is funded by the Grönbergska Foundation (The Swedish Research Council, K2002-27GP-14104-02B) and the Medical Faculty of Lund University. We thank our research nurses Kerstin Nilsson, Monica Pehrsson, Karin Henriksson and Anita Schmidt-Casslén for their assistance with body measurements and blood drawing, and Johanna Wagenius, Johanna Frenander, Helen Sundberg, Malin Sternby, and Susanna Holmquist for their assistance with recruitment. We thank Dr. Eric T. Dryver for proofreading the manuscript and Dr. Pär-Ola Bendahl for assistance with the statistical analyses.


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Copyright information

© Springer Science + Business Media B.V. 2007

Authors and Affiliations

  • Maria Henningson
    • 1
  • Erika Bågeman
    • 1
  • Therese Sandberg
    • 1
  • Åke Borg
    • 1
  • Håkan Olsson
    • 2
  • Helena Jernström
    • 1
    Email author
  1. 1.Department of Oncology, Clinical SciencesLund UniversityLundSweden
  2. 2.Departments of Oncology and Cancer Epidemiology, Clinical SciencesLund UniversityLundSweden

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