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Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland
Author(s) -
Janiszewska H,
Haus O,
LaudaŚwieciak A,
Pasińska M,
Laskowski R,
Szymański W,
Górski B,
Lubiński J
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1046/j.1399-0004.2003.00178.x
Subject(s) - frameshift mutation , proband , ovarian cancer , missense mutation , mutation , breast cancer , genetics , medicine , founder effect , brca mutation , cancer , genetic testing , family history , oncology , biology , gene , genotype , haplotype
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.