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a Department of
Medical Genetics, Institute for Medical Biochemistry and Genetics,
Panum Institute, Blegdamsvej 3, 2200 Copenhagen N, Denmark, b Laboratory of Cell Biology, Department of
Pathology, University Hospital of Iceland, Landspitalinn, Building 14, 101 Reykjavik, Iceland, c Department of Oncology, The Finsen
Centre, Rigshospitalet, Building 5-01-2, Blegdamsvej 9, 2100 Copenhagen, Denmark, d Division
for Cancer Epidemiology, Danish Cancer Society, Strandboulevarden 49, 2100 Copenhagen, Denmark, e Department of Oncology, University Hospital,
S-221 85 Lund, Sweden, f Department
of Anatomy and Pathology, Herlev University Hospital, Herlev Ringvej,
2730 Herlev, Denmark
Correspondence to: Dr Bergthorsson, Iceland, nonni{at}rsp.is
Revised version received 26 March 2001;
Accepted for publication 27 March 2001
INTRODUCTION
A small fraction of
breast cancer is the result of germline mutations in the
BRCA1 and BRCA2
cancer susceptibility genes. Mutation
carriers frequently have a positive family history of breast and
ovarian cancer, are often diagnosed at a young age, and may have a
higher incidence of double or multiple primary breast tumours than
breast cancer patients in general.
OBJECTIVESTo estimate the
prevalence and spectrum of BRCA1 and
BRCA2 mutations in young Danish patients
affected with bilateral or multifocal breast cancer and to determine
the relationship of mutation status to family history of cancer.
SUBJECTSFrom the files of the
Danish Breast Cancer Cooperative Group (DBCG), we selected 119 breast
cancer patients diagnosed before the age of 46 years with either
bilateral (n=59) or multifocal (n=61) disease.
METHODSDNA from the subjects was
screened for BRCA1 and
BRCA2 mutations using single strand
conformation analysis (SSCA) and the protein truncation test (PTT).
Observed and expected cancer incidence in first degree relatives of the
patients was estimated using data from the Danish Cancer Registry.
RESULTSTwenty four mutation
carriers were identified (20%), of whom 13 had a
BRCA1 mutation and 11 carried a
BRCA2 mutation. Two mutations in
BRCA1 were found repeatedly in the material
and accounted for seven of the 24 (29%) mutation carriers. The
mutation frequency was about equal in patients with bilateral (22%)
and multifocal breast cancer (18%). The incidence of breast and
ovarian cancer was greatly increased in first degree relatives of
BRCA1 and BRCA2 mutation carriers, but to a much lesser degree in relatives of non-carriers. An increased risk of cancer was also noted in brothers of
non-carriers.
CONCLUSIONSA relatively broad
spectrum of germline mutations was observed in
BRCA1 and BRCA2
and most of the mutations are present in other populations. Our results
indicate that a diagnosis of bilateral and multifocal breast cancer is
predictive of BRCA1 and
BRCA2 mutation status, particularly when
combined with information on the patients' age at diagnosis and family
history of breast/ovarian cancer.
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