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 |