Table 2

BRCA2 germline mutations and cancer phenotypes of German breast/ovarian cancer families

									No of cancers
Family	Exon	Nucleotide	Codon	Base change	Amino acid change	Designation	Type*	Reported in BIC†	Breast (bilateral)	Breast ≤50 y	Ovarian
*FS, frameshift mutation; NS, nonsense mutation; SP, splice site mutation.
†BIC, Breast Cancer Information Core database.
‡More than one patient's age of diagnosis is unknown.
§Including two ovarian or uterine cancers.
¶Including a borderline tumour.
*Described by Hamann et al*.²⁷
98	11	3036	936	delACAA	Stop 958	3036del4	FS	24×	6‡	1	3§
86	11	3279	1017	delC	Stop 1042	3279delC	FS	–	3	1	1
83	11	4780	1518	G→T	Glu→Stop	E1518X	NS	–	1	0	3¶
33	11	5910	1894	C→G	Tyr→Stop	Y1894X	NS	14×	8 (1)	4	–
53	11	6265	2013	A→T	Lys→Stop	K2013X	NS	–	3 (2)	2	–
67	14	7296	2356	delTC	Stop 2358	7296delTC	FS**	–	3 (1)	2	–
76	23	9345	3039	G→A	Pro→Pro	9345G>A	SP	2×	4 (1)	4	1
97	27	9894	3222	delT	Stop 3248	9894delT	FS	1×	4 (1)	1	–