Constitutional CHEK2mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan

Table 1 Description of index cases screened for CHEK2 mutations

Cancer type of index case	Phenotype of families^a	Number of families	Index cases		Mean age of index cases in years (age range)	Cases with mutations N (%)
Cancer type of index case	Phenotype of families^a	Number of families	Unilateral BC	Bilateral BC	Mean age of index cases in years (age range)	Cases with mutations N (%)
Group I
Female cases
BC	Early onset BC (1 case ≤30 years)	66	66	-	27.2 (22–30)	1 (1.5)
BC	HBC (2 cases, ≥1 diagnosed ≤50 years)	30	17	13	34.2 (22–48)	0 (0)
BC	HBC (≥3 cases, ≥1 diagnosed ≤50 years)	9	5	4	38.1 (24–70)	0 (0)
BC	HBOC (≥2 cases)	2	2	-	41.5 (35–48)	0 (0)
BC & OC^b	HBOC (≥2 cases)	4	3	1	31.2 (29–34)	0 (0)
OC	HBOC (≥2 cases)	2	-	-	31 (28–34)	1 (50)
OC	Early onset OC (1 case ≤45 years)	19	-	-	33.2 (22–45)	0 (0)
OC	HOC (2 cases, ≥1 diagnosed ≤45 years)	2	-	-	34 (31–37)	0 (0)
Male cases
BC	Male BC	11	11	-	48 (30–73)	0 (0)
All cases^c		145	104	18		2 (1.4)
Group II
Female cases
BC	Early onset BC (1 case ≤30 years)	103	103	-	27.1 (19–30)	0 (0)
BC	HBC (2 cases, ≥1 diagnosed ≤50 years)	55	49	6	40.8 (19–61)	0 (0)
BC	HBC (≥3 cases, ≥1 diagnosed ≤50 years)	53	47	6	44.4 (26–73)	0 (0)
BC	HBOC (≥2 cases)	8	7	1	49 (26–67)	0 (0)
BC & OC^b	HBOC (≥2 cases)	3	2	1	45.6 (30–59)	0 (0)
OC	HBOC (≥2 cases)	5	-	-	43.2 (33–60)	0 (0)
OC	Early onset OC (1 case ≤45 years)	2	-	-	30.5 (25–36)	0 (0)
All cases^d		229	208	14		0 (0)

BC, breast cancer; HBC, hereditary breast cancer; HBOC, hereditary breast and ovarian cancer; HOC, hereditary ovarian cancer; OC, ovarian cancer.
^asee “Study subjects in Method section”.
^bBreast and ovarian cancer in the same patient were counted as two independent cases.
^cIncluding 111 female BCs, 11 male BCs and 27 OCs.
^dIncluding 222 female BCs and 10 OCs.

ISSN: 1471-2407