Author Affiliations: Division of General Internal Medicine, Vanderbilt University Medical Center, and Department of Veterans Affairs, Tennessee Valley Healthcare System (Dr Murff), and the Sarah Cannon Cancer Center (Dr Spigel), Nashville, Tenn; Division of Gastroenterology, Brigham and Women's Hospital and Population Sciences Division, Dana-Farber Cancer Institute, Boston, Mass (Dr Syngal).
The Rational Clinical Examination Section Editors: David L. Simel, MD, MHS, Durham Veterans Affairs Medical Center and
Duke University Medical Center, Durham, NC; Drummond Rennie, MD, Deputy Editor, JAMA.
Context A family history of certain cancers is associated with an increased
risk of developing cancer. Both cancer screening and genetic services referral
decisions are often based on self-reported pedigree information.
Objective To determine the accuracy of self-reported family cancer history information.
Data Sources English-language articles were retrieved by searching MEDLINE (1966-June
2004) using Medical Subject Headings family, genetic predisposition
to disease, medical history taking, neoplasm, and reproducibility of results. Additional articles were identified through
Study Selection Original studies in which investigators validated self-reported family
history by reviewing the identified relatives' medical records, death certificate,
or cancer registry information were included, as well as studies that evaluated
breast, colon, ovarian, endometrial, and prostate cancers.
Data Extraction Two of the 3 investigators independently reviewed and abstracted data
for estimating the likelihood ratios (LRs) of self-reported family cancer
history information. Only data from studies that evaluated both positive and
negative family cancer histories were included within the analyses. A total
of 14 studies met the search criteria and were included in the review.
Data Synthesis For patients without a personal history of cancer, the positive and
negative LRs of a family history of the following cancers in a first-degree
relative were 23.0 (95% confidence interval [CI], 6.4-81.0) and 0.25 (95%
CI, 0.10-0.63) for colon cancer; 8.9 (95% CI, 5.4-15.0) and 0.20 (95% CI,
0.08-0.49) for breast cancer; 14.0 (95% CI, 2.2-83.4) and 0.68 (95% CI, 0.31-1.52)
for endometrial cancer; 34.0 (95% CI, 5.7-202.0) and 0.51 (95% CI, 0.13-2.10)
for ovarian cancer; and 12.3 (95% CI, 6.5-24.0) and 0.32 (95% CI, 0.18-0.55)
for prostate cancer, respectively. Positive predictive values tended to be
better in articles concerning first-degree relatives compared with second-degree
Conclusions Patient-reported family cancer histories for first-degree relatives
are accurate and valuable for breast and colon cancer risk assessments. Negative
family history reports for ovarian and endometrial cancers are less useful,
although the prevalence of these malignancies within families is low.
Murff HJ, Spigel DR, Syngal S. Does This Patient Have a Family History of Cancer? An Evidence-Based Analysis of the Accuracy of Family Cancer History. JAMA. 2004;292(12):1480–1489. doi:10.1001/jama.292.12.1480
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