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Table 1 Description of index cases screened for CHEK2 mutations

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

Cancer type of index case Phenotype of familiesa Number of families Index cases Mean age of index cases in years (age range) Cases with mutations N (%)
Unilateral BC Bilateral BC
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 & OCb 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 casesc 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 & OCb 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 casesd   229 208 14   0 (0)
  1. BC, breast cancer; HBC, hereditary breast cancer; HBOC, hereditary breast and ovarian cancer; HOC, hereditary ovarian cancer; OC, ovarian cancer.
  2. asee “Study subjects in Method section”.
  3. bBreast and ovarian cancer in the same patient were counted as two independent cases.
  4. cIncluding 111 female BCs, 11 male BCs and 27 OCs.
  5. dIncluding 222 female BCs and 10 OCs.