Table 1

Mutations and cancers in biallelic BRCA2 mutation cases

Family	Case	Mutation 1			Mutation 2			Other variant	Cancer	Reference
Family	Case	Nucleotide change	Exon	Effect	Nucleotide change	Exon	Effect	Other variant	Cancer	Reference
1	Wilms2-RB	886delGT	8	V220fsX233	5873C→A	11	S1882X		Wilms,glioblastoma	This report
	Wilms2-CB								Wilms, medulloblastoma,B-ALL
2	772/1	886delGT	8	V220fsX233	8447T→A	18	L2740X		Medulloblastoma	Hirsch et al¹²
	772/2								Wilms, medulloblastoma
3	Kin2–1	4876G→T	11	E1550X	–	–		L2510P	Wilms, AML	Hirsch et al¹²
	Kin2–2								T-ALL
4	Kindred 2	886delGT	8	V220fsX233	6174delT	11	S1982fsX2003		Medulloblastoma	Offit et al¹¹
5	Kindred 3	5301insA	11	K1691fsX1694	–	–		I2490T	Medulloblastoma	Offit et al¹¹
6	Kindred 4	4150G→T	11	E1308X	9424C→T	24	Q3066X		Medulloblastoma	Offit et al¹¹
7	Kindred1/1	6174delT	11	S1982fsX2003	9435T→A	24	C3069X		Posterior fossatumour	Offit et al¹¹
	Kindred1/2								Astrocytoma
8	129/1	IVS7+2T→G	IVS7	del exon 7	IVS7+2T→G	IVS7	del exon 7		AML	Wagner et al¹³
9	357/1	2041insA	10	I605fsX613	–	–		W2626C	AML	Wagner et al¹³
10	632/1	IVS7+1G→A	IVS7	del exon 7	5910C→G	11	Y1894X		AML	Wagner et al¹³
	632/2								AML
11	800/1	IVS7+2T→G	IVS7	del exon 7	5164del4	11	E1646fsX1668		AML	Wagner et al¹³
	800/2								Wilms (occult)
12	900/1	2816insA	11	N863fsX880	–	–		N372H	T-ALL	Wagner et al¹³
13	HSC62	IVS19–1G→A	IVS19	del 2830–3	IVS19–1G→A	IVS19	del 2830–3		No cancer at30 years	Howlett et al¹⁰
14	EUFA423	7691insAT	15	R2488fsX2512	9900insA	27	I3224fsX3254		Brain tumour	Howlett et al¹⁰
15	HSC230	3033delAAAC	11	K936fsX958	–	–		K3326X	No cancer at2 years	Howlett et al¹⁰
16	EUFA579	5837–5838TC→AG	11	F1870X	–	–		R2336H	AML	Howlett et al¹⁰
17	AP37P	8732C→A	20	S2835X	–	–		K2729N	AML	Howlett et al¹⁰