Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

Palmero, Edenir Inêz; Caleffi, Maira; Schüler‐Faccini, Lavínia; Roth, Fernanda Lenara; Kalakun, Luciane; Netto, Cristina; Skonieski, Giovana; Giacomazzi, Juliana; Weber, Bernadete; Giugliani, Roberto; Camey, Suzi Alves; Ashton‐Prolla, Patrícia

doi:10.1590/s1415-47572009005000058

Cited by 18 publications

(28 citation statements)

References 50 publications

(52 reference statements)

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“…These results have been reported elsewhere in detail in [27]. Even considering that the majority of families with family histories of a hereditary breast cancer syndrome fulfilled the more relaxed criteria for Li-Fraumeni-like syndrome, the identification of such families may still be relevant since this geographic has been identified as a region with high prevalence of a specific TP53 germline mutation.…”

Section: Discussionsupporting

confidence: 72%

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

et al. 2009

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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.

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Section: Discussionsupporting

confidence: 72%

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

et al. 2009

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“…The cultural and social background of the patients attending the clinic should be considered 22. Finally, even with ideal conditions, difficulties such as an overcrowded system, lack of adherence to treatment, need for continuous medical education, and genetic testing implications may be encountered 23.…”

Section: Developing the Programmentioning

confidence: 99%

Establishing a Program for Individuals at High Risk for Breast Cancer

Cádiz¹,

Kuerer²,

Puga³

et al. 2013

J. Cancer

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Our need to create a program for individuals at high risk for breast cancer development led us to research the available data on such programs. In this paper, we summarize our findings and our thinking process as we developed our own program.Breast cancer incidence is increasing worldwide. Even though there are known risk factors for breast cancer development, approximately 60% of patients with breast cancer have no known risk factor, although this situation will probably change with further research, especially in genetics. For patients with risk factors based on personal or family history, different models are available for assessing and quantifying risk. Assignment of risk levels permits tailored screening and risk reduction strategies. Potential benefits of specialized programs for women with high breast cancer risk include more cost -effective interventions as a result of patient stratification on the basis of risk; generation of valuable data to advance science; and differentiation of breast programs from other breast cancer units, which can result in increased revenue that can be directed to further improvements in patient care.Guidelines for care of patients at high risk for breast cancer are available from various groups. However, running a high-risk breast program involves much more than applying a guideline. Each high-risk program needs to be designed by its institution with consideration of local resources and country legislation, especially related to genetic issues. Development of a successful high-risk program includes identifying strengths, weaknesses, opportunities, and threats; developing a promotion plan; choosing a risk assessment tool; defining “high risk”; and planning screening and risk reduction strategies for the specific population served by the program. The information in this article may be useful for other institutions considering creation of programs for patients with high breast cancer risk.

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“…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). The program also includes nutritional support for overweight women and psychological follow-up for all breast cancer patients.…”

Section: Study Design Setting and Samplementioning

confidence: 99%

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

Caleffi

Ribeiro

Bedin

et al. 2010

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Adherence to breast cancer screening is a key element to ensure effectiveness of programs aiming at downstaging of breast cancer. In this study, we evaluated adherence to a screening program and its predictors in underserved women in southern Brazil.Methods: Attendance to the program, which is based on yearly mammogram and clinical examination, was evaluated prospectively. Mean time frames between visits were calculated. Possible predictors of adherence (defined as mean intervals ≤18 mo), such as socioeconomic indicators and health/lifestyle behaviors, were investigated.Results: A total of 3,749 women (age 51 ± 8 y, illiteracy rate of 6.8%, 57.4% with parity ≥3) were analyzed. Median time between screening rounds was 16.5 months (interquartile range, 13.1-25.7), and median number of rounds attended was 3 (interquartile range, 2-4); 57.6% had mean intervals ≤18, and 71% ≤24 months. The most important independent predictors of adherence were high genetic risk [relative risk (RR), 1.25; 95% confidence interval (95% CI), 1.11-1.40], illiteracy (RR, 0.77; 95% CI, 0.67-0.90), parity ≥5 (RR, 0.89; 95% CI, 0.83-0.96), and smoking (RR, 0.82; 95% CI, 0.77-0.88).Conclusions: Although the proposed screening interval was 1 year, compliance to biannual screening (accepted in several international programs) was high, especially when considering the low socioeconomic level of the sample.Impact: This project aims to test a breast cancer screening model for underserved populations in limitedresource countries where adherence is an issue. The identification of worst adherence predictors can point to interventions to improve outcomes of similar public health screening strategies. Cancer Epidemiol Biomarkers

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Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

Cited by 18 publications

References 50 publications

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

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

Establishing a Program for Individuals at High Risk for Breast Cancer

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

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