BRCA1 and BRCA2 mutations in central and southern Italian patients

Breast Cancer Research

Table 4 Proportions of BRCA1 and BRCA2 mutations in 117 female breast/ovarian cancer probands, classified by number of cancer patients in the family, age at disease diagnosis, site-specific breast or breast-ovarian/ovarian cancer

	Age of proband at disease diagnosis
	40 years or less		41-50 years		51 years or more		All ages
Cancer patients	BRCA1	BRCA2	BRCA1	BRCA2	BRCA1	BRCA2	BRCA1	BRCA2
in family^†	[% (n)]	[% (n)]	[% (n)]	[% (n)]	[% (n)]	[% (n)]	[% (n)]	[% (n)]
Breast
One	4 (1/28)	4 (1/28)	0 (0/9)^*	0 (0/9)^*	0 (0/10)^*	0 (0/10)^*	2 (1/47)^*	2 (1/47)^*
Two or three	25 (2/8)	0 (0/8)	0 (0/13)	0 (0/13)	3 (1/34)	9 (3/34)	5 (3/55)	5 (3/55)
Total	8 (3/36)	3 (1/36)	0 (0/22)	0 (0/22)	2 (1/44)	7 (3/44)	4 (4/102)	4 (4/102)
Breast/ovary
None/one	0 (0/1)	0 (0/1)	0 (0/1)	0 (0/1)	0 (0/3)	0 (0/3)	0 (0/5)	0 (0/5)
None to two/	-	-	25 (1/4)	0 (0/4)	0 (0/6)	0 (0/6)	10 (1/10)	0 (0/10)
one or two
Total	0 (0/1)	0 (0/1)	20 (1/5)	0 (0/5)	0 (0/9)	0 (0/9)	7 (1/15)	0 (0/15)

^†Including proband; numbers of BRCA1-and BRCA2-positive cases over number of cases in each age subset aregiven in parentheses. ^*The 19 breast cancer patients with nofamilial clustering of breast/ovarian cancer diagnosed above age 40 yearsincluded 10 cases with bilateral breast cancer and nine patients with breastcancer associated with gastrointestinal, pancreatic or endometrial cancer(synchronous/metachronous, four cases; in a first-degree relative, fivecases).

ISSN: 1465-542X