title: Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care.
abstract: BACKGROUND
  Breast 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  Of 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).
  
  
  CONCLUSIONS
  A 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.
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul , Porto Alegre, Brazil. pprolla@hcpa.ufrgs.br
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.forename: Juliana
authors.initials: J
authors.lastname: Giacomazzi
authors.forename: Aishameriane V
authors.initials: AV
authors.lastname: Schmidt
authors.forename: Fernanda L
authors.initials: FL
authors.lastname: Roth
authors.forename: Edenir I
authors.initials: EI
authors.lastname: Palmero
authors.forename: Luciane
authors.initials: L
authors.lastname: Kalakun
authors.forename: Ernestina S
authors.initials: ES
authors.lastname: Aguiar
authors.forename: Susana M
authors.initials: SM
authors.lastname: Moreira
authors.forename: Erica
authors.initials: E
authors.lastname: Batassini
authors.forename: Vanessa
authors.initials: V
authors.lastname: Belo-Reyes
authors.forename: Lavinia
authors.initials: L
authors.lastname: Schuler-Faccini
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Maira
authors.initials: M
authors.lastname: Caleffi
authors.forename: Suzi Alves
authors.initials: SA
authors.lastname: Camey
mesh_terms: D000328:Adult; D001938:Brazil / Q000453:epidemiology; D001943:Breast Neoplasms / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology*; D015331:Cohort Studies; D003625:Data Collection / Q000379:methods*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D008875:Middle Aged; D011320:Primary Health Care / Q000379:methods*; D011795:Surveys and Questionnaires; D055815:Young Adult
references.citation: J Med Genet. 2000 Nov;37(11):828-30
references.pmid: 11073535
references.citation: Cancer Genet Cytogenet. 2008 Jul;184(1):62-6
references.pmid: 18558292
references.citation: Fam Cancer. 2009;8(3):195-202
references.pmid: 19153822
references.citation: Oncol Nurs Forum. 2005 May 10;32(3):617-23
references.pmid: 15897936
references.citation: J Clin Oncol. 2009 Mar 10;27(8):1250-6
references.pmid: 19204208
references.citation: Cancer. 2006 Oct 15;107(8):1769-76
references.pmid: 16967460
references.citation: Genet Med. 2006 Sep;8(9):571-5
references.pmid: 16980813
references.citation: Ann Intern Med. 2007 Oct 2;147(7):441-50
references.pmid: 17909205
references.citation: J Clin Oncol. 1996 May;14(5):1730-6; discussion 1737-40
references.pmid: 8622094
references.citation: J Am Board Fam Pract. 2005 May-Jun;18(3):211-7
references.pmid: 15879569
references.citation: Curr Oncol Rep. 2005 Nov;7(6):469-74
references.pmid: 16221384
references.citation: Am J Prev Med. 2004 Oct;27(3):239-45
references.pmid: 15450637
references.citation: Community Genet. 2001;4(3):134-42
references.pmid: 14960905
references.citation: Cancer. 1994 Feb 1;73(3):643-51
references.pmid: 8299086
references.citation: Cancer Surv. 1995;25:101-24
references.pmid: 8718514
references.citation: BMC Public Health. 2009 Mar 13;9:83
references.pmid: 19284670
references.citation: J Natl Cancer Inst. 1989 Dec 20;81(24):1879-86
references.pmid: 2593165
references.citation: Cancer Res. 1994 Mar 1;54(5):1298-304
references.pmid: 8118819
references.citation: Cancer Res. 1988 Sep 15;48(18):5358-62
references.pmid: 3409256
references.citation: Stat Med. 2004 Apr 15;23(7):1111-30
references.pmid: 15057881
references.citation: Cad Saude Publica. 2000 Jan-Mar;16(1):261-3
references.pmid: 10738173
references.citation: J Genet Couns. 2007 Jun;16(3):363-71
references.pmid: 17318454
references.citation: Cad Saude Publica. 2007 Aug;23(8):1785-90
references.pmid: 17653396
references.citation: BMC Health Serv Res. 2006 Dec 05;6:156
references.pmid: 17147819
references.citation: Ann Intern Med. 2005 Sep 6;143(5):362-79
references.pmid: 16144895
references.citation: Breast J. 2003 Jan-Feb;9(1):19-25
references.pmid: 12558666
references.citation: JAMA. 2004 Sep 22;292(12):1469-73
references.pmid: 15383518
references.citation: JAMA. 2007 Jun 20;297(23):2587-95
references.pmid: 17579227
references.citation: Community Genet. 1998;1(4):237-42
references.pmid: 15178967
references.citation: Clin Genet. 2006 Nov;70(5):388-95
references.pmid: 17026620
references.citation: Am J Hum Genet. 2003 May;72(5):1308-14
references.pmid: 12690581
references.citation: Am J Hum Genet. 2002 Aug;71(2):432-8
references.pmid: 12094328
references.citation: Genet Mol Biol. 2009 Jul;32(3):447-55
references.pmid: 21637504
references.citation: J Clin Oncol. 2005 Jan 10;23(2):276-92
references.pmid: 15637391