Numerous high-risk epithelial lesions in familial breast cancer.
OBJECTIVE
To assess the occurrence of high-risk epithelial lesions in women of breast cancer families with and without a BRCA mutation.


METHODS
Prospective study of women at very high risk of breast cancer undergoing prophylactic mastectomy (68 BRCA1 mutation carriers, 14 BRCA2 mutation carriers and 24 non-BRCA mutation carriers).


RESULTS
The prevalence of high-risk lesions is equal in women with a BRCA1 or a BRCA2 mutation, but is higher in non-BRCA mutation carriers: all lesions 43% versus 71% (p=0.02), atypical lobular hyperplasia 26% versus 67% (p=0.001), atypical ductal hyperplasia 17% versus 42% (p=0.01), lobular carcinoma-in situ 15% versus 29% (p=0.10) and ductal carcinoma-in situ 9% versus 17% (p=0.25). The presence of high-risk lesions is related to absence of a BRCA mutation and to age over 40 years.


CONCLUSIONS
Women with an autosomal dominant family history for breast cancer, with and without a BRCA mutation are prone to develop high-risk epithelial lesions, especially over 40 years.
Hoogerbrugge
N
N
Department of Human Genetics, Hereditary Cancer Clinic, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. n.hoogerbrugge@antrg.umcn.nl
Bult
P
P
Bonenkamp
J J
JJ
Ligtenberg
M J L
MJ
Kiemeney
L A
LA
de Hullu
J A
JA
Boetes
C
C
Niermeijer
M F
MF
Brunner
H G
HG
D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011446:Prospective Studies; D012307:Risk Factors