In:
Clinical Genetics, Wiley, Vol. 64, No. 6 ( 2003-12), p. 502-508
Abstract:
A group of 63 families from the Pomerania–Kujawy region were analyzed for three BRCA1 gene Polish founder mutations, 5382insC, 300T 〉 G, and 4153delA, because of breast (BrCa) and/or ovarian cancer (OvCa) history. The analysis was carried out by multiplex polymerase chain reaction method. BRCA1 mutation was revealed in nine (14%) families: in three (33%) of hereditary BrCa and OvCa families, in three (8%) of hereditary BrCa families, and in three (21%) of hereditary OvCa families. According to risk criteria, it was revealed in 45% of high‐risk families with more than three cancers, 13% of moderate‐risk families with two cancers, and 8% of families with sporadic OvCa. In six families, the mutation was found in a proband with BrCa or OvCa and in three families, the mutation was found in a healthy proband, first‐degree relative of a patient deceased of BrCa or OvCa. 5382insC frameshift mutation accounted for 67% and 300T 〉 G missense mutation for 33% of all identified familial mutations. 4153delA frameshift mutation was not found in analyzed sample of families. 5382insC mutation was found in 9% and 300T 〉 G in 5% of all investigated families, and in 27 and 18%, respectively, of high‐risk families. This underlines the importance of applying strict inclusion criteria to analyze mutation frequency in hereditary BrCa/OvCa families.
Type of Medium:
Online Resource
ISSN:
0009-9163
,
1399-0004
DOI:
10.1046/j.1399-0004.2003.00178.x
Language:
English
Publisher:
Wiley
Publication Date:
2003
detail.hit.zdb_id:
2004581-5
detail.hit.zdb_id:
221209-2
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