Table 2 Characteristics of the recruited index cases
Demographic | Index cases | |
|---|---|---|
Number | Percentage | |
Sex | ||
Female | 141 | 72.3 |
Male | 54 | 27.7 |
Age at first diagnosis | ||
18 and under | 16 | 8.2 |
19–49 | 125 | 64.1 |
50 and over | 54 | 27.7 |
Prior genetic testing | ||
Uninformative resulta | 140 | 71.8 |
None | 55 | 28.2 |
Recruitment site | ||
QLD | 46 | 23.6 |
VIC | 58 | 29.7 |
TAS | 14 | 7.2 |
SA | 21 | 10.8 |
NSW | 29 | 14.9 |
WA | 27 | 13.8 |
Study referral | ||
Meets direct eligibility requirements | 157 | 80.5 |
Eligible via independent panel assessment | 38 | 19.5 |
Virtual panel used | ||
Panel A (107 genes) | 24 | 12.3 |
Panel B (101 genes) | 171 | 87.7 |
Broad tumour-associated phenotypeb | ||
Gynaecological and breast | ||
Breast | 43 | 22.1 |
Endometrial | 12 | 6.2 |
Ovarian | 9 | 4.6 |
Cervical | 4 | 2.1 |
Other gynaecological | 2 | 1.0 |
Urogenital | ||
Renal cell carcinoma | 35 | 17.9 |
Prostate | 6 | 3.1 |
Urothelial carcinoma | 3 | 1.5 |
Other urogenital | 13 | 6.7 |
Neuroendocrine | ||
Thyroid | 29 | 14.9 |
Non-thyroid | 26 | 13.3 |
Polyposis | ||
Adenomas or adenomatous polyposis | 28 | 14.4 |
Serrated polyps | 6 | 3.1 |
Hyperplastic polyps | 6 | 3.1 |
Hamartomatous or Juvenile polyps | 1 | 0.5 |
Other polyps | 6 | 3.1 |
Gastrointestinal | ||
Colorectal | 28 | 14.4 |
Upper gastrointestinal | 11 | 5.6 |
Skin cancer | ||
Melanoma | 21 | 10.8 |
Non-melanoma | 14 | 7.2 |
Sarcoma | ||
Soft tissue | 10 | 5.1 |
Bone | 4 | 2.1 |
Other sarcoma | 3 | 1.5 |
Respiratory | 12 | 6.2 |
Head and neck | 8 | 4.1 |
Brain | 8 | 4.1 |
Lymphoma | 8 | 4.1 |
Non-endocrine pancreatic | 7 | 3.6 |
Unknown primary | 3 | 1.5 |
Non-brain neurological | 1 | 0.5 |
Other | 43 | 22.1 |