Premium
BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern Poland
Author(s) -
Perkowska Magdalena,
BroŻek Izabela,
Wysocka Barbara,
Haraldsson Karin,
Sandberg Therese,
Johansson Ulla,
Sellberg Gunilla,
Borg Ake,
Limon Janusz
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9139
Subject(s) - biology , ovarian cancer , brca2 protein , breast cancer , mutation , genetics , cancer research , oncology , medicine , cancer , germline mutation , gene
Sixty high‐risk breast and/or ovarian cancer families from North‐Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high‐performance liquid chromatography and direct sequencing. Sixteen (27%) of the families were found to carry nine different BRCA mutations, including 14 families with BRCA1 mutation and two families with BRCA2 mutation. The results suggest the presence of two strong BRCA1 founder mutations in the Polish population – 5382insC (6 families) and 300T>G (Cys61Gly; 3 families). The remaining seven mutations were found in single families and included three previously reported BRCA1 mutations (185delAG, 2682C>T [Gln855Ter] and 3819del5), a novel BRCA1 mutation (IVS14+1G>A), as well as two BRCA2 mutations (4088delA and 7985G>A [Trp2586Ter]) not previously observed in Polish families. We confirm the strong influence of two Central‐Eastern European BRCA1 founder mutations in familial breast and/or ovarian cancer in Poland. We also conclude that the Polish population has a more dispersed BRCA mutation spectrum than had been earlier thought. This warrants further careful BRCA mutation screening in order to optimise genetic counselling and disease prevention in affected families. © 2003 Wiley‐Liss, Inc.