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Table 1 Characteristics and outcomes of cases returned

From: Lost in translation: returning germline genetic results in genome-scale cancer research

Gene Variant Status at time of finding Dissemination of results Outcome from dissemination Clinical utilisation
ATM c.7271 T > G p.Val2424Gly Alive - with disease. Not undergoing active treatment Clinician notified Referral to local cancer genetics service Family received genetic counselling.
BRCA2 c.5410_5411deGT p.Val1804Lysfs*2 Alive - with disease. Undergoing active treatment Clinician notified Referral to local cancer genetics service. Clinical utilisation Family received genetic counselling and offered predictive testing. Switch in treatment to personalised therapy
BRCA2 c.4631delA p.Asn1544Thrfs*2 Alive - with disease. Undergoing active treatment Clinician notified Referral to local cancer genetics service. Clinical utilisation Family declined genetic counselling. Switch in treatment to personalised therapy
CHEK2 c.1100del p.Thr367Metfs*15 Alive - with disease. Undergoing active treatment Clinician notified Clinical decision not to pursue Nil to date
PALB2 c.172_175delTTGT p.Ser59Cysfs*10 Alive - with disease. Undergoing active monitoring Clinician notified Referral to local cancer genetics service Family received genetic counselling and offered predictive testing
PMS2 c.1738A > T p.Lys580* Alive - with disease. Not undergoing active treatment Clinician notified Clinical decision not to pursue Nil to date
BRCA1 c.181 T > G p.Cys61Gly Deceased - of disease Collaborator notified No provision for RoR NA
BRCA1 c.3477_3480delAAAG p.Ile1159Metfs*50 Lost to follow-up Collaborator notified No provision for RoR NA
BRCA1 c.181 T > G p.Cys61Gly Deceased - of disease Collaborator notified Information resides with collaborators Nil to date
BRCA2 c.7180A > T p.ARg2394* Alive - without disease. Not undergoing active monitoring Collaborator notified No provision for RoR NA
BRCA2 c.7976G > A p.Arg2659Lys Deceased - of disease Collaborator notified Information resides with collaborators Nil to date
BRCA2 c.6702delT p.Phe2234Leufs*7 Alive - without disease. Not undergoing active monitoring Collaborator notified Referral to local cancer genetics service Family received genetic counselling and offered predictive testing
CDKN2A c.344G > T p.Arg115Leu Deceased - of disease Collaborator notified No provision for RoR NA
PALB2 c.3362delG p.Gly1121Valfs*3 Deceased - of disease Collaborator notified No provision for RoR NA
VHL c.154G > T p.Glu52* Deceased - of disease Collaborator notified No provision for RoR NA
BRCA2 c.5239insT p.Asn1747* Deceased - of disease Letter direct to patient or next of kin Referral to local cancer genetics service Family received genetic counselling and offered predictive testing
BRCA2 c.5722_5723delCT p.Leu1908Argfs*2 Alive - with disease. Not undergoing active treatment Letter direct to patient or next of kin No reply Nil to date
BRCA2 c.9294C > G p.Tyr3098* Deceased - of disease Letter direct to patient or next of kin No reply Nil to date
CDKN2A c.146 T > C p.Ile49Ser Deceased - of disease Letter direct to patient or next of kin Referral to local cancer genetics service Family received genetic counselling and offered predictive testing
PALB2 c.3116del p.Asn1039Ilefs*2 Deceased - of disease Letter direct to patient or next of kin No reply Nil to date