The impact of cancer pathology confirmation on clinical management of a family history of cancer

Fam Cancer. 2011 Jun;10(2):373-80. doi: 10.1007/s10689-010-9407-9.


Regional cancer genetics services in the UK base many of their risk assessments on the careful evaluation of a family history of disease. The pathological details of cancers in relatives can help refine this risk assessment and alter subsequent management. By analysing a variety of medical records, we surveyed how often a reported family history was discrepant from that recorded in the records, and how often this impacted on surveillance recommendations. Our survey analysed pathology confirmation and risk assessment in families over a 7-month period of referrals. 839 cancers were reported and 476 were independently confirmed. The accuracy of a reported family history differed depending on the reported site of a cancer and on the degree of relationship to the patient. Whilst the majority of reported cancers (84%) were confirmed, a change in risk assessment through pathology confirmation resulted in altered management in 20% of all referrals.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Carcinoma, Non-Small-Cell Lung / mortality
  • Carcinoma, Non-Small-Cell Lung / pathology
  • Carcinoma, Non-Small-Cell Lung / therapy
  • Female
  • Humans
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / mortality
  • Lung Neoplasms / pathology
  • Lung Neoplasms / therapy
  • Male
  • Middle Aged