Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

Abstract

BackgroundBreast cancer is a significant public health problem worldwide and the development of tools to identify individuals at-risk for hereditary breast cancer syndromes, where specific interventions can be proposed to reduce risk, has become increasingly relevant. A previous study in Southern Brazil has shown that a family history suggestive of these syndromes may be prevalent at the primary care level. Development of a simple and sensitive instrument, easily applicable in primary care units, would be particularly helpful in underserved communities in which identification and referral of high-risk individuals is difficult.MethodsA simple 7-question instrument about family history of breast, ovarian and colorectal cancer, FHS-7, was developed to screen for individuals with an increased risk for hereditary breast cancer syndromes. FHS-7 was applied to 9218 women during routine visits to primary care units in Southern Brazil. Two consecutive samples of 885 women and 910 women who answered positively to at least one question and negatively to all questions were included, respectively. The sensitivity, specificity and positive and negative predictive values were determined.ResultsOf the 885 women reporting a positive family history, 211 (23.8%; CI95%: 21.5–26.2) had a pedigree suggestive of a hereditary breast and/or breast and colorectal cancer syndrome. Using as cut point one positive answer, the sensitivity and specificity of the instrument were 87.6% and 56.4%, respectively. Concordance between answers in two different applications was given by a intra-class correlation (ICC) of 0.84 for at least one positive answer. Temporal stability of the instrument was adequate (ICC = 0.65).ConclusionA simple instrument for the identification of the most common hereditary breast cancer syndrome phenotypes, showing good specificity and temporal stability was developed and could be used as a screening tool in primary care to refer at-risk individuals for genetic evaluations.

Genetics, genomics, and cancer risk assessment

“…92 Another is the 3-question Colorectal Cancer Risk Assessment Tool, best used as a first pass at identifying persons who may be at hereditary risk for colorectal cancer. 93 A breast cancer focused Web-based tool for use by either patients or providers is the Breast Cancer Genetics Referral Screening Tool (B-RST), which can be completed in less than 5 minutes (available at: http://www.brcagenscreen.org/).…”

Adherence to a Breast Cancer Screening Program and Its Predictors in Underserved Women in Southern Brazil

“…Women with abnormal mammograms are referred for further evaluation (e.g., diagnostic mammogram with compression and/or magnification, ultrasound, fine-needle or core biopsy) in the same facility where screening takes place. All women are assessed for family or personal history of breast, colorectal, and/or ovarian cancer with the use of a simple seven-question instrument, FHS-7, which has been validated in this population (14). If the family history is suggestive of a hereditary breast cancer syndrome, the patient is referred to a clinical geneticist for further evaluation (15).…”

Population-based strategy for breast cancer screening in Brazil

“…hereditary breast cancer patients), can provide an important opportunity for cancer prevention, NMPOA devised a hereditary BC risk-stratification strategy (7)(8)(9). A simple questionnaire (FHS-7), developed to detect mainly hereditary breast and ovarian cancer (HBOC), was validated in the NMPOA cohort and applied to all women upon enrollment (10,11). Those responding positively to at least one question were referred for further risk assessment, with a trained professional.…”