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Familial Cancer

, Volume 18, Issue 2, pp 153–160 | Cite as

Electronically ascertained extended pedigrees in breast cancer genetic counseling

  • V. Stefansdottir
  • H. Skirton
  • O. Th. Johannsson
  • H. Olafsdottir
  • G. H. Olafsdottir
  • L. Tryggvadottir
  • J. J. JonssonEmail author
Original Article

Abstract

A comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP’s were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founder BRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3° relatives or up to five generations with an average no. of 53.8 individuals (range 9–220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained with data from pre-existing genealogy databases and cancer registries can save effort and contain more information than traditional pedigrees. Genetic services should consider generating EGP’s which requires access to an accurate genealogy database and cancer registry. Local data protection laws and regulations have to be addressed.

Keywords

Cancer genetic counseling BRCA2 Electronically generated pedigrees Breast cancer Genealogy database 

Notes

Acknowledgements

We thank Cyril Chapman for his help with Pedigree Assistant.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  1. 1.Department of Genetics and Molecular MedicineLandspitali – National University HospitalReykjavikIceland
  2. 2.Faculty of Health and Human SciencesPlymouth UniversityPlymouthUK
  3. 3.Department Of Medical OncologyLandspitali – National University HospitalReykjavikIceland
  4. 4.Icelandic Cancer RegistryIcelandic Cancer SocietyReykjavikIceland
  5. 5.Department of Biochemistry and Molecular BiologyUniv. of IcelandReykjavikIceland
  6. 6.Faculty of MedicineUniv. of IcelandReykjavikIceland
  7. 7.Genetical Committee of the University of IcelandReykjavikIceland

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