Table 2.

Pathogenic mutations^a identified by gene-panel testing in probands diagnosed before the age of 40 years in the population-based Australian Breast Cancer Family Registry

Gene b	HGVS_c c	HGVS_pc	Carriers
BRCA1	c.5266dupC	p.Gln1756Profs	4
	c.5095C > T	p.Arg1699Trp	1
	c.4689C > G	p.Tyr1563Ter	1
	c.4327C > T	p.Arg1443Ter	1
	c.4239del	p.Glu1413Aspfs	1
	c.4065_4068delTCAA	p.Asn1355Lysfs	2
	c.3756_3759delGTCT	p.Ser1253Argfs	1
	c.3155delA	p.Asn1052Metfs	1
	c.2681_2682delAA	p.Lys894Thrfs	2
	c.2475delC	p.Asp825Glufs	1
	c.1687C > T	p.Gln563Ter	1
	c.427G > T	p.Glu143Ter	1
	c.68_69delAG	p.Glu23Valfs	1e
BRCA2	c.250C > T	p.Gln84Ter	1
	c.755_758delACAG	p.Asp252Valfs	2
	c.3847_3848delGT	p.Val1283Lysfs	1
	c.5576_5579delTTAA	p.Ile1859Lysfs	1
	c.5946delT	p.Ser1982Argfs	3
	c.6275_6276delTT	p.Leu2092Profs	2
	c.8575delC	p.Gln2859Lysfs	3e
	c.8878C > T	p.Gln2960Ter	1
	c.8904delC	p.Val2969Cysfs	1
ATM	c.7271 T > G	p.Val2424Glu	1 d

^aMutation in BRCA1 and BRCA2 that are classified as pathogenic by the expert panel ENIGMA, PALB2:p.Trp1038* or ATM:p.Val2424Glu

^bTranscript sequences are BRCA1: NM_007294.3; BRCA2: NM_00059.3; ATM:NM_000051

^cVariant nomenclature according to the Human Genome Variation Society (HGVS), HGVS_c for coding DNA and HGVS_p for protein variants

^dData from Chenevix-Trench et al., [10]

^eOne woman carried these two mutations