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Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families
Author(s) -
Hartikainen JM,
Kataja V,
Pirskanen M,
Arffman A,
Ristonmaa U,
Vahteristo P,
Ryynänen M,
Hein S,
Kosma VM,
Mannermaa A
Publication year - 2007
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 - 10.1111/j.1399-0004.2007.00866.x
Subject(s) - ovarian cancer , breast cancer , penetrance , germline mutation , founder effect , brca2 protein , mutation , population , biology , genetics , cancer , palb2 , oncology , gene , medicine , genotype , phenotype , haplotype , environmental health
Familial aggregation is thought to account for 5–10% of all breast cancer cases, and high penetrance breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 explain ≤20% of these. Hundreds of mutations among breast/ovarian cancer families have been found in these two genes. The mutation spectrum and prevalence, however, varies widely among populations. Thirty‐six breast/ovarian cancer families were identified from a population sample of breast and ovarian cancer cases among a relatively isolated population in Eastern Finland, and the frequency of BRCA1 / BRCA2 germline mutations were screened using heteroduplex analysis, protein truncation test and sequencing. Five different mutations were detected in seven families (19.4%). Two mutations were found in BRCA1 and three in BRCA2 . One of the mutations ( BRCA2 4088insA) has not been detected elsewhere in Finland while the other four, 4216‐2nt A→G and 5370 C→T in BRCA1 and 999del5 and 6503delTT in BRCA2 , are recurrent Finnish founder mutations. These results add to the evidence of the geographical differences in distribution of Finnish BRCA1 / BRCA2 mutations. This screen also provides further evidence for the presumption that the majority of Finnish BRCA1 / BRCA2 founder mutations have been found and that the proportion of BRCA1 / BRCA2 mutations in Finnish breast/ovarian cancer families is around 20%.