Accuracy of family history of cancer: Clinical genetic implications

Rolf H. Sijmons, Akkelies E. Boonstra, Jennita Reefhuis, Jannet M. Hordijk-Hos, H. E K De Walle, Jan C. Oosterwijk, Martina C. Cornel

Research output: Contribution to journalArticleAcademicpeer-review

91 Citations (Scopus)


Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are therefore routinely verified. To investigate whether such verification is clinically justified, we retrospectively analysed the accuracy of a consecutive series of 383 tumour reports from counsellees on 120 families in our clinic. We evaluated these families for the impact of verification on clinical genetic diagnosis and management. Accuracy according to cancer type showed marked variation, ranging from 93% and 89% for breast cancer and colorectal cancer, respectively, to 42% and 37% for extra-colorectal alimentary tract cancer and uterine cancer. Accuracy was related to the degree of kinship of the affected relative, but not to age and gender of the counsellee, nor to the reason for referral or personal history of cancer. Age at diagnosis and multiple primary tumours were reported accurately in 97% and 94% of cases, respectively. In six out of 120 families verification data changed clinical genetic management, in five of these the genetic risk was reduced. Although verification of all reported cancer cases in a family remains the 'gold standard' for clinical as well as research purposes, verification of reports on breast cancer can be limited without seriously compromising medical decision making. In cases where verification is impossible because medical records are unavailable, findings from studies such as ours may help in interpreting family histories.

Original languageEnglish
Pages (from-to)181-186
Number of pages6
JournalEuropean journal of human genetics
Issue number3
Publication statusPublished - 18 Apr 2000


  • Accuracy
  • Family cancer history
  • Genetics
  • Verification

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