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Table 1 Eligibility criteria for recruitment of index cases

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

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 InSiGHTa or eviQb 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 sexc)

 • 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)

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