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

Breast Cancer Research

Table 2 Family characteristics: cancer type, density and BRCA1/2 mutation status

	Female breast cancer only	Female breast and ovarian cancer	Ovarian cancer only	Male breast cancer only	Female and male breast cancer	Female breast, male breast and ovarian cancer	No breast or ovarian cancer^a	Total number of UFNs^b
Total number of UFNs	518	239	4	3	37	14	7	822^c
	Number of affecteds per family
<3	100	14	3	3	4	0	7	131
3–5	330	143	1	0	21	5	0	500
>5	88	82	0	0	12	9	0	191
Median age at diagnosis (range)	49 (20–91)	48 (22–89)	51 (36–57)	63 (47–68)	54 (30–87)	53 (31–86)	-	49 (20–91)
Median number of individuals with breast or ovarian cancer (range)	4 (1–14)	5 (1–19)	1 (1–3)	2 (1–2)	4 (2–12)	6.5 (3–17)	-	4 (0–19)
	Number of families by BRCA1/BRCA2 mutation status^d
BRCA1 pathogenic or splice site mutation	42	71	2	0	1	2	4	122
BRCA1 unclassified variant only	19	7	0	0	0	0	0	26
BRCA2 pathogenic or splice site mutation	60	32	1	1	7	6	0	107
BRCA2 unclassified variant only	21	12	0	0	3	0	0	36
BRCA1 or BRCA2 variant not yet classified	5	5	0	0	0	0	0	6
No BRCA1 or BRCA2 mutation: complete testing^e	84	36	0	0	12	4	0	136
No BRCA1 or BRCA2 mutation: incomplete testing	231	69	1	1	10	2	0	314
Not yet tested for BRCA1 or BRCA2	56	11	0	1	4	0	3	75

The table shows the number of tumors reported and verified in all available generations on the genetically informative side of families. ^aSeven families had no cases of breast or ovarian cancer at the time the database was surveyed. Since then cancer diagnoses have been downloaded to the Central Registry for four families that had been downloaded prematurely, one family has been merged with another that contains cases of cancer, and two more families are category 4, with a member who wished to give fresh tissue to kConFab, but no additional information is available on their affected relatives. ^bUFN, unique family number. ^cMerged families are counted by their individuals components, not as a merged pedigree. ^dSome families have a pathogenic or splice site mutation as well as an unclassified variant, and some families have two unclassified variants. ^eAt least one person tested by high-sensitivity methods for BRCA1 and BRCA2 mutations.

ISSN: 1465-542X