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

Grindedal, Eli Marie; Heramb, Cecilie; Karsrud, Inga; Ariansen, Sarah Louise; Mæhle, Lovise; Undlien, Dag Erik; Norum, Jan; Schlichting, Ellen

doi:10.1186/s12885-017-3422-2

BMC Cancer

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.1016dupA^a	Frameshift	30-39	Yes	Yes	Yes
	1	del exon 3-16	Deletion	30-39	No	No	No
	1	c.3228_3229delAG^a*	Frameshift	30-39	Yes	No	No
	1	c.3178G > T^a	Nonsense	40-49	Yes	No	No
	1	c.3084_3094delTAATAACATTA^a	Frameshift	40-49	Yes	No	Yes
	1	c.3228_3229delAG^a	Frameshift	40-49	Yes	No	Yes
	1	c.5047G > T^b	Nonsense	40-49	Yes	Yes	Yes
	1	c.3607C > T^b	Nonsense	50-59	Yes	Yes	No
	1	c.4484G > A^c	Missense. Leads to skipping of exon 14	50-59	Yes	No	No
	2	c.5407-2A > G^c	Frameshift, skipping of exon 23	60-69	Yes	No	No
	2	c.1072delC^b	Frameshift	60-69	Yes	No	No
	2	c.1556delA^a	Frameshift	40-49	Yes	Yes	No
	2	c.5153G > C^b	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.697delGT^a	Frameshift	70-	Yes	Yes	Yes
	2	c.3228_3229delAG^a	Frameshift	50-59	Yes	Yes	Yes
	2	c.445G > T	Nonsense	40-49	No	Yes	Yes
	2	c.1016dupA^a	Frameshift	50-59	Yes	No	Yes
	2	c.5266dupC	Frameshift	30-39	No	Yes	No
	2	c.2989_29x0dup^b	Frameshift	50-59	Yes	No	No
	2	c.1016dupA^a	Frameshift	30-39	Yes	No	No
	2	c.1556delA^a	Frameshift	50-59	Yes	Yes	No
	2	dup exon 13^b	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_3848delGT^a	Frameshift	40-49	Yes	No	No
	1	c.614delG^c	Frameshift	50-59	Yes	Yes	No
	2	c.4936_4939delGAAA^b	Frameshift	40-49	Yes	No	No
	2	c.3847delGT^a	Frameshift	40-49	Yes	No	No
	2	c.9403delC	Frameshift	40-49	No	No	No
	2	c.5722delCT^b	Frameshift	40-49	Yes	No	No
	2	c.6059_6062delAACA^b	Frameshift	30-39	Yes	No	No
	2	c.5722delCT^b	Frameshift	50-59	Yes	Yes	No
	2	c.4794_4797delCAAT	Frameshift	40-49	No	Yes	No
	2	c.614delG^c	Frameshift	30-39	Yes	Yes	No
	2	c.7024C > T	Nonsense	30-39	No	Yes	No
	2	c.9699_9702delTATG^c	Frameshift	70-	Yes	No	No
	2	dup exon 20^b	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

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ISSN: 1471-2407

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