Table 1.

Details of rare gene variants

					Family history (age at diagnosis)
Patient	Gene	Variant	Effect	Age*	First-degree relatives	Second-degree relatives
Protein truncating mutations
M0271	BRCA2	253delC	Frameshift	48	None	MGM Br(?age)
M0041	BRCA2	2192delC	Frameshift	55	F Pa(74)	PU Pa(42), PA Br(48), PA Pa(63)
M0040	BRCA2	5974delCT	Frameshift	60	F Pr(61)	None
M0293	BRCA2	7928delCT	Frameshift	69	M Br(67)	None
M0238	BRCA2	8474delAG	Frameshift	62	F Pr + Ki(75)	None
Missense variants of unknown significance
M0383	BRCA1	2640C > T	R841W	63	None	None
M0016	BRCA2	5972T > C	T1915M	74	F HN(85), B Lu(50's)	None
M0021	BRCA2	5972T > C	T1915M	72	None	None
M0288	BRCA2	4486G > T	D1420Y	55	M Br(77)	None

^*Age at diagnosis (years). F, father; M, mother; B, brother; MGM, maternal grandmother; PU, paternal uncle; PA, paternal aunt; Br, breast cancer; HN, head and neck; Ki, kidney cancer; Lu, lung cancer; Pa, pancreatic cancer; Pr, prostate cancer.