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Table 1 Identified BRCA1/2 carriers

From: Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers

Gene Cohort Mutation Effect Age at diagnosis Norwegian ancestry Qualifying for predictive testing Triple negative disease
BRCA1 1 c.2019delA Frameshift 20-29 No No Yes
  1 c.1016dupAa Frameshift 30-39 Yes Yes Yes
  1 del exon 3-16 Deletion 30-39 No No No
  1 c.3228_3229delAGa* Frameshift 30-39 Yes No No
  1 c.3178G > Ta Nonsense 40-49 Yes No No
  1 c.3084_3094delTAATAACATTAa Frameshift 40-49 Yes No Yes
  1 c.3228_3229delAGa Frameshift 40-49 Yes No Yes
  1 c.5047G > Tb Nonsense 40-49 Yes Yes Yes
  1 c.3607C > Tb Nonsense 50-59 Yes Yes No
  1 c.4484G > Ac Missense. Leads to skipping of exon 14 50-59 Yes No No
  2 c.5407-2A > Gc Frameshift, skipping of exon 23 60-69 Yes No No
  2 c.1072delCb Frameshift 60-69 Yes No No
  2 c.1556delAa Frameshift 40-49 Yes Yes No
  2 c.5153G > Cb Missense 40-49 Yes Yes No
  2 c.3756_3759delGTCT Frameshift 40-49 No No No
  2 del exon 22 Frameshift 40-49 No No Yes
  2 c.5309G > T Missense 30-39 No Yes Yes
  2 c.697delGTa Frameshift 70- Yes Yes Yes
  2 c.3228_3229delAGa Frameshift 50-59 Yes Yes Yes
  2 c.445G > T Nonsense 40-49 No Yes Yes
  2 c.1016dupAa Frameshift 50-59 Yes No Yes
  2 c.5266dupC Frameshift 30-39 No Yes No
  2 c.2989_29x0dupb Frameshift 50-59 Yes No No
  2 c.1016dupAa Frameshift 30-39 Yes No No
  2 c.1556delAa Frameshift 50-59 Yes Yes No
  2 dup exon 13b Frameshift 50-59 Yes No No
  2 c.5309G > T Missense 30-39 No No Yes
  2 c.5503C > T Nonsense 50-59 No Yes Yes
BRCA2
  1 c.4710delA Frameshift 30-39 No No No
  1 c.3847_3848delGTa Frameshift 40-49 Yes No No
  1 c.614delGc Frameshift 50-59 Yes Yes No
  2 c.4936_4939delGAAAb Frameshift 40-49 Yes No No
  2 c.3847delGTa Frameshift 40-49 Yes No No
  2 c.9403delC Frameshift 40-49 No No No
  2 c.5722delCTb Frameshift 40-49 Yes No No
  2 c.6059_6062delAACAb Frameshift 30-39 Yes No No
  2 c.5722delCTb Frameshift 50-59 Yes Yes No
  2 c.4794_4797delCAAT Frameshift 40-49 No Yes No
  2 c.614delGc Frameshift 30-39 Yes Yes No
  2 c.7024C > T Nonsense 30-39 No Yes No
  2 c.9699_9702delTATGc Frameshift 70- Yes No No
  2 dup exon 20b Frameshift 40-49 Yes Yes Yes
  1. 1: Tested at Oslo University Hospital Ullevål (OUH-U)
  2. 2: Tested at other hospitals in South-Eastern Norway Regional Health Authority trust’s coverage area (SERHA)
  3. aCommon Norwegian founder mutation38
  4. bIdentified in 1-9 families at Department of Medical Genetics (DMG), OUH (unpublished data)
  5. cNot identified previously at DMG, OUH
  6. BC Breast cancer
  7. OC Ovarian cancer