title: Accuracy of cancer family histories: comparison of two breast cancer syndromes.
abstract: Cancer risk programs rely on accurately reported family history information. This study compares the accuracy with which cancer sites and ages at diagnosis are reported by Li-Fraumeni syndrome (LFS) and hereditary breast-ovarian cancer syndrome (HBOCS) families undergoing genetic testing. We analyzed the accuracy of 191 cancer diagnoses among first-degree (FDRs) and second-degree (SDRs) relatives reported by 32 LFS and 52 HBOCS participants in genetic testing programs. Cancer diagnoses of relatives were more accurately reported in the HBOCS cohort (78%) than in the LFS cohort (52%). Almost all breast cancer diagnoses were accurately reported, whereas 74% of ovarian cancer diagnoses and only 55% of other LFS-related cancers were accurately reported. Age at diagnosis was accurate within 5 years for 60% of LFS relatives and 53% of HBOCS relatives. Factors correlating with accurate reporting of cancer history included: being member of BRCA1 family, higher education level, female historian, degree of closeness to affected relative, and having fewer than 5 affected FDRs and SDRs. Relying on verbal histories would not have altered eligibility for genetic testing among HBOCS historians, but fewer than half of LFS historians provided information that would have led to TP53 testing. Our data suggest that it may not be necessary to confirm breast cancer diagnoses routinely; however, documentation of other cancer types remains important for appropriate risk assessment and follow-up.
authors.affiliation: Population Sciences, Dana-Farber Cancer Institute, Boston, MA 02115, USA. Katherine_Schneider@dfci.harvard.edu
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Schneider
authors.forename: Lisa M
authors.initials: LM
authors.lastname: DiGianni
authors.forename: Andrea Farkas
authors.initials: AF
authors.lastname: Patenaude
authors.forename: Neil
authors.initials: N
authors.lastname: Klar
authors.forename: Jill E
authors.initials: JE
authors.lastname: Stopfer
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Calzone
authors.forename: Frederick P
authors.initials: FP
authors.lastname: Li
authors.forename: Barbara L
authors.initials: BL
authors.lastname: Weber
authors.forename: Judy E
authors.initials: JE
authors.lastname: Garber
mesh_terms: D000367:Age Factors; D019313:BRCA1 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D005260:Female; D005817:Genetic Counseling / Q000592:standards; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis* / Q000235:genetics; D008487:Medical History Taking / Q000592:standards; D008499:Medical Records / Q000592:standards; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012307:Risk Factors; D013577:Syndrome; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: D019313:BRCA1 Protein; D016159:Tumor Suppressor Protein p53