A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region.
To identify BRCA1 germ-line mutations in the breast and breast-ovarian cancer families in the Stockholm region, a total of 127 families were screened. DNA from 174 patients from these families were studied using various mutation screening techniques, followed by direct DNA sequencing. Mutations were identified in 7 of 20 families with breast and ovarian cancer and in one family with ovarian cancer only, whereas only 1 family of 106 with breast cancer showed a mutation. Thus, germ-line mutations in BRCA1 were found in one-third of the families with both breast and ovarian cancer, but in only 1% of the breast cancer families. The low frequency of germ-line mutations in the site-specific breast cancer families means that other genes are likely to segregate in these families.
Zelada-Hedman
M
M
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Wasteson Arver
B
B
Claro
A
A
Chen
J
J
Werelius
B
B
Kok
H
H
Sandelin
K
K
Håkansson
S
S
Andersen
T I
TI
Borg
A
A
Børresen Dale
A L
AL
Lindblom
A
A
D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D008403:Mass Screening; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D013548:Sweden / Q000453:epidemiology