The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Table 1 Eligibility criteria for recruitment of index cases

Eligibility criteria	Index cases (number / percent)^d
An index case in a family that fulfils clinical criteria for a hereditary cancer syndrome	28 (14.4)
An index case with two primary cancers (either synchronous or metachronous) diagnosed at 60 years or younger	83 (42.6)
An index case with three primary cancers diagnosed at 70 years or younger	52 (26.7)
Index case with colorectal polyposis defined as per InSiGHT^a or eviQ^b testing guidelines for MUTYH and/or APC	29 (14.9)
A cancer-affected individual fulfilling two or more of the following criteria: • Early age at onset (under 40 years for adult cancer or < 10 years younger than the mean age of cancer diagnosis for that tumour type and sex^c) • One or more first-degree relatives with the same kind of cancer • Two or more first- or second-degree relatives with different cancers, where at least one cancer is very rare	42 (21.5)

^aThe International Society for Gastrointestinal Hereditary Tumours (InSiGHT), as per https://www.insight-group.org/
^beviQ, as per https://www.eviq.org.au/
^cAustralian Institute of Health and Welfare 2017. Cancer in Australia 2017. Cancer series no. 101. Cat. no. CAN 100. Canberra: AIHW
^dPercent does not add to 100% as index cases may have met more than one eligibility criteria

ISSN: 1756-994X