Validation of family history of breast cancer and identification of the BRCA1 and other syndromes using a population-based cancer registry

Abstract

A major risk factor for breast cancer is family history of the disease in first‐degree relatives. This study evaluates the validity of family history information on breast cancer in mothers and sisters of breast cancer probands from the cancer registry (CR) compared to personal interviews (PI) of 359 consecutive population‐based cases of breast cancer. Breast cancer is seen in mothers of 14% of probands by CR compared to 12% by PI. Further, 13% of probands have a sister with breast cancer using CR compared to 12% by PI. Using PI as the standard, the sensitivity of the CR family history data in mothers is 92% and the specificity is 99%, while in sisters they are 88% and 99%, respectively. These estimates were calculated on cases where family history information is available in the CR. Sensitivity and specificity are recalculated, recording an “error” whenever family history information is not available, and they are 75% and 68%, respectively, for mothers and 72% and 70%, respectively, for sisters. Estimates of proband‐mother and proband‐sisters familial breast cancer from CR and PI are sufficiently similar to warrant the use of CR family history data in studies of genetic epidemiology. The family phenotype consistent with the BRCA1 syndrome was found in four (1.1%) probands, all below age 50 years, while for BRCA2 there were five (1.4%) probands, three below age 50 years and two 50 years or older. Site‐specific familial breast cancer was found in 23 (6.4%) probands. Population‐based multiple‐case breast cancer families can rapidly be identified through CR. These families can make substantial contributions to the study of genetic and environmental etiology of the disease as well as benefit from preventive and therapeutic efforts. As new knowledge and tools in molecular genetics become available, there is an urgent need for large population‐based registries of families at high risk for cancer. © 1996 Wiley‐Liss, Inc.

Race and family history assessment for breast cancer

“…However, several studies have confirmed that patient self-report of a family history of breast cancer is accurate. [57][58][59][60] Finally, we had limited information regarding provider demographics and were unable to adjust our analysis based on these factors. Emerging literature has suggested that concordance between patient and provider gender and/or race might have an important impact on communication.…”

Germline BRCA1 Alterations in a Population-Based Series of Ovarian Cancer Cases

“…The CSPOC is one of the regional registries of the California Cancer Reporting System, meeting all reporting requirements of the Surveillance, Epidemiology and End Results Program of the National Cancer Institute. Protocols for population-based ascertainment of ovarian cancer have been described previously (28). We applied rapid case ascertainment methods to identify and recruit cases to participate within 2 months of diagnosis.…”

Disparities in cancer screening in individuals with a family history of breast or colorectal cancer

“…Having a family history of breast cancer (BC) or colorectal cancer (CRC) is associated with an increased risk of developing these cancers compared with those with no family history. [1][2][3] BC and CRC are among the most common types of cancers as well as among the leading causes of cancer death in the United States, and both have evidence-based recommendations for screening and prevention. 4 Nationally, among the estimated 8% of the population who report a family history of BC and 5% who report a family history of CRC, screening rates for these cancers are higher than among average-risk individuals.…”