Table 1

Participant details

Sex22 female (F); 11 male (M)
ConditionHereditary breast/ovarian cancer (HBOC) (n=14: n=5 had cancer before test)
Lynch syndrome (n=8: n=6 had cancer before test)
Familial adenomatous polyposis (FAP) (n=3: n=1 had cancer before test)
Alport syndrome (n=4)
Hereditary cardiomyopathy (n=2)
Hereditary haemochromatosis (n=1)
Huntington's disease (n=1)
Test resultAll tested and diagnosed as positive except
  •  n=2 tested negative (P9,cardiomyopathy,F; P11,Huntington,F)

  •  n=2 untested (P5,Lynch,F; P12,HBOC,F)

Learning about riskMost learnt of their risk at the same time as siblings and other close relatives. Seven were the first to be tested and told family about their risk immediately, often before having the test/getting their result
DisclosureNone had withheld information although a few had not told distant relatives yet, mostly because they had no contact details. Three participants’ relatives did not share information about risk with them.
  •  P5 (possible Lynch,F): cousin was withholding his exact mutation so she could not have a definitive test.

  •  P18 (HBOC,F): sister did not want to tell her about risk directly so asked her General Practitioner (GP) to do so. P18 found out months later as GP failed to pass the message on.

  •  P30 (HBOC,F): sister did not share her HBOC diagnosis. P30 found out because a nurse mentioned it during an appointment with the affected withholding sister, which another sister attended. The latter shared the information