Háhraðaraðgreining á litningasvæðum sem eru líkleg til að bera BRCAx samkvæmt tengslagreiningu á fjölskyldum með háa tíðni brjóstakrabbameins ll - verkefnislok
About 5% of breast cancer cases belong to families with high incidence of the disease. Mutations in one of the two known BRCA genes explain the prevalence of breast cancer in up to half of the Icelandic high risk families. In the other half of the families the explanation is unknown.
Heiti verkefnis: Háhraðaraðgreining á litningasvæðum sem eru líkleg til að bera BRCAx samkvæmt tengslagreiningu á fjölskyldum með háa tíðni brjóstakrabbameins
Verkefnisstjóri: Rósa Björk Barkardóttir, Landspítala-háskólasjúkrahúsi
Tegund styrks: Verkefnisstyrkur
Styrkár: 2011-2012
Styrkfjárhæð: 10,01 millj. kr. alls
Tilvísunarnúmer Rannís: 110458
In this project high throughput sequencing was performed on more than 500 genes residing in three different chromosome regions strongly suggestive of harbouring genetic factors that increase risk of breast cancer. The sequencing was conducted on DNA samples from four breast cancer cases of a family that has high LOD scores (~ 3) for all three loci. Due to the high penetrance in this family and the similarity to families with mutations in the two tumour suppressor genes BRCA1 and BRCA2, we anticipated that within at least one of these three loci a rare and a relatively high penetrant mutation within a putative tumour suppressor gene would be identified. A two year grant of 10 million Isk was received from Rannis to endeavour to prove this theory. No high penetrant mutation was identified but the sequencing data are now being perused for low to moderate penetrant mutations. Beside the data from whole exomic sequencing of all genes in DNA samples from this high penetrant breast cancer family, that can be used for further search of genetic breast cancer risk factors, one MSc thesis was published as an output of the project (A search for novel genes on chromsomes 2p, 6q and 14q in an Icelandic high-risk breast cancer family, Óskar Örn Hálfdánarson (2013))