Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource

Breast Cancer Research

Table 7 BRCA1 and BRCA2 mutation carriers

Mutation status^a	Number of mutations	Number of families	Number of female carriers (obligate^b)		Number of male carriers (obligate^b)
			All	Affected	All	Affected
BRCA1
Pathogenic	62	118	282 (56)	175 (51)	115 (18)	0 (0)
Splice site	4	4	13 (3)	10 (2)	7 (0)	0 (0)
Unclassified variant	22	27	81 (4)	46 (3)	30 (2)	0 (0)
Total	88	149	376 (63)	231 (56)	152 (20)	0 (0)
BRCA2
Pathogenic	58	98	237 (32)	140 (26)	85 (11)	5 (1)
Splice site	5	9	26 (2)	17 (2)	8 (5)	0 (1)
Unclassified variant	31	43	99 (2)	57 (2)	38 (3)	1 (0)
Total	94	150	362 (36)	214 (30)	131 (19)	6 (2)
Total BRCA1 and BRCA2	182	299	738 (99)	445 (86)	283 (39)	6 (2)

^aAfter exclusion of common polymorphisms, mutations and variants were classified according to the kConFab classification scheme [18]; some families have pathogenic or splice site mutations, as well as an unclassified variant, some families have two unclassified variants, and some unclassified variants occur in more than one family. ^bObligate carriers are classified as 'definite' obligate carriers if one of their offspring and a maternal or paternal relative are both proven carriers, and 'probable' obligate carriers if they are a parent of one or more proven carriers but the other declared biological parent(s) is a proven non-carrier. Numbers of definite and probable obligate carriers (based on pedigree analysis) are in addition to tested carriers.

ISSN: 1465-542X