title: Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families.
abstract: Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that an increased sensibility of AT heterozygotes to the effect of ionizing radiation could be responsible for the increased BC risk. BC relative risk (RR) estimation in AT heterozygotes within families ascertained through AT children is presented here. Family data collected included demographic characteristics, occurrence of cancers, past radiation exposures and blood samples. DNA samples were studied using seven ATM linked microsatellites markers allowing AT haplotypes reconstitution. The relative risk of BC was assessed using French estimated incidence rates. A significant increase risk of BC is found among obligate ATM heterozygotes with a point estimate of 3.32 (P = 0.002). BC relative risk calculated according to age is significantly increased among the obligate ATM heterozygotes female relatives with an age < or = 44 years (RR = 4.55, P = 0.005). The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age > or = 45 years (RR = 2.48, P = 0.08). The estimated BC relative risk among ATM heterozygotes is consistent with previously published data. However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC.
authors.affiliation: Institut Gustave Roussy, Villejuif, France.
authors.forename: N
authors.initials: N
authors.lastname: Janin
authors.forename: N
authors.initials: N
authors.lastname: Andrieu
authors.forename: K
authors.initials: K
authors.lastname: Ossian
authors.forename: A
authors.initials: A
authors.lastname: Laugé
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
authors.forename: M
authors.initials: M
authors.lastname: Debré
authors.forename: B
authors.initials: B
authors.lastname: Bressac-de-Paillerets
authors.forename: A
authors.initials: A
authors.lastname: Aurias
authors.forename: D
authors.initials: D
authors.lastname: Stoppa-Lyonnet
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001260:Ataxia Telangiectasia / Q000150:complications* / Q000235:genetics*; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005602:France; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018570:Risk Assessment