Mutations in this gene were first reported in 1994

Castilla (1994) Nat Genet 8, 387
Friedman (1994) Nat Genet 8, 399
Miki (1994) Science 266, 66
Simard (1994) Nat Genet 8, 392


Number of entries by mutation type

Click on the respective mutation type to view detailed information about the mutations as logged in HGMD.

Mutation type Total number of mutations
Nucleotide substitutions (missense / nonsense) 95
Nucleotide substitutions (splicing) 22
Nucleotide substitutions (regulatory) 0
Small deletions 111
Small insertions 36
Small indels 3
Gross deletions 12
Gross insertions & duplications 1
Complex rearrangements (including inversions) 0
Repeat variations 0
TOTAL 280

Number of entries by phenotype

Phenotype Nucleotide
substitutions		 Micro-lesions Gross lesions
Breast cancer 114 137 13
Ovarian cancer 3 13 0

Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out.