title: Cascade screening in BRCA1/2 mutation carriers.
abstract: Genetic counselling for families with BRCA1 & 2 has been available in Ireland since 1998. We describe the follow-on cascade from the initial 29 index cases that tested positive for either gene. 28 of the index cases were female and 1 was male. Their combined sibship and offspring totalled 125 and 129 respectively. Of the 125 siblings, 21/72 (29%) females and 10/53 (19%) males came forward for counselling and all were tested. Of the 129 at risk offspring, 56 (43%) [25 females and 31 males] were over 18 years and therefore were eligible for testing. 20/25 (80%) females and 6/31 (19%) males came for counselling and all bar one female was tested. In summary, 31/125 (25%) at risk siblings were tested and 25/56 (45%) offspring were tested. Only one person, a daughter of an affected individual who attended clinic, declined testing. The remaining 197 (77%) individuals have not come forward for counselling. Our results suggest that a) there is a low-moderate testing rate in Ireland when compared to other European centres; and that b) daughters of BRCA1/2 carriers are more likely to come forward for testing than female siblings. Specific factors which appeared to influence attendance included poor dissemination of information among families about the test; and lower levels of communication among siblings than within the nuclear family.
authors.affiliation: National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin. nuala.cody@olchc.ie
authors.forename: N
authors.initials: N
authors.lastname: Cody
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: T
authors.initials: T
authors.lastname: McDevitt
authors.forename: S A
authors.initials: SA
authors.lastname: Lynch
mesh_terms: D000293:Adolescent; D000328:Adult; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008403:Mass Screening / Q000379:methods*; D009154:Mutation; D010375:Pedigree; D012189:Retrospective Studies; D012307:Risk Factors; D035781:Siblings