Table 1.

Identified BRCA1/2 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: Tested at Oslo University Hospital Ullevål (OUH-U)

2: Tested at other hospitals in South-Eastern Norway Regional Health Authority trust’s coverage area (SERHA)

^aCommon Norwegian founder mutation³⁸

^bIdentified in 1-9 families at Department of Medical Genetics (DMG), OUH (unpublished data)

^cNot identified previously at DMG, OUH

BC Breast cancer

OC Ovarian cancer