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. 2016 Apr 14;98(5):818–829. doi: 10.1016/j.ajhg.2016.03.003

Figure 1.

Figure 1

Inherited or Acquired Mutations Combine to Cause Biallelic Loss of BRCA2 in Three of the Ten Discovery Set PCa Tumors

(A) Three samples had a significantly elevated mutation rate compared to the other seven tumors. Six genes harbored somatic mutations in three or more tumors. For this purpose, SVs were counted only when the breakpoints were within a gene and the orientation or integrity of at least one exon was interrupted. BRCA2 was the only gene that was mutated in all three tumors with an elevated mutation rate.

(B) Truncating indels, all confirmed via Sanger sequencing, were detected in each of the affected tumors. Nucleotide and protein changes are reported with respect to RefSeq accession numbers GenBank: NM_000059.3 and NP_000050.2, respectively.

(C) All three tumors also have copy loss at the locus. The blue line indicates somatic copy number, with SV breakpoints marked by red arrows. Black dots represent allelic imbalance for heterozygous dbSNP 137 SNVs that had variant allele fraction between 45% and 55% in the normal DNA. The red box indicates the position of BRCA2.