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The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
Tone, Alicia A; McCuaig, Jeanna M; Ricker, Nicole; Boghosian, Talin; Romagnuolo, Tina; Stickle, Natalie; Virtanen, Carl; Zhang, Tong; Kim, Raymond H; Ferguson, Sarah E; May, Taymaa; Laframboise, Stephane; Armel, Susan; Demsky, Rochelle; Volenik, Alexandra; Stuart-McEwan, Terri; Shaw, Patricia; Oza, Amit; Kamel-Reid, Suzanne; Stockley, Tracy; Bernardini, Marcus Q.
Afiliação
  • Tone AA; Gynecologic Oncology, The University Health Network, Toronto, Canada; Ovarian Cancer Canada, Toronto, Canada.
  • McCuaig JM; Gynecologic Oncology, The University Health Network, Toronto, Canada; Familial Cancer Clinic, The University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Ricker N; Gynecologic Oncology, The University Health Network, Toronto, Canada.
  • Boghosian T; Gynecologic Oncology, The University Health Network, Toronto, Canada.
  • Romagnuolo T; Gynecologic Oncology, The University Health Network, Toronto, Canada.
  • Stickle N; Bioinformatics and HPC Core, The University Health Network, Toronto, Canada.
  • Virtanen C; Bioinformatics and HPC Core, The University Health Network, Toronto, Canada.
  • Zhang T; Advanced Molecular Diagnostics Laboratory, The University Health Network, Toronto, Canada.
  • Kim RH; Familial Cancer Clinic, The University Health Network, Toronto, Canada; Department of Medicine, University of Toronto, Toronto, Canada; Medical Oncology, The University Health Network, Toronto, Canada.
  • Ferguson SE; Gynecologic Oncology, The University Health Network, Toronto, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Canada.
  • May T; Gynecologic Oncology, The University Health Network, Toronto, Canada.
  • Laframboise S; Gynecologic Oncology, The University Health Network, Toronto, Canada.
  • Armel S; Familial Cancer Clinic, The University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Demsky R; Familial Cancer Clinic, The University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Volenik A; Familial Cancer Clinic, The University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Stuart-McEwan T; Surgical Services, The University Health Network, Toronto, Canada.
  • Shaw P; Gynecologic Pathology, The University Health Network, Toronto, Canada.
  • Oza A; Medical Oncology, The University Health Network, Toronto, Canada.
  • Kamel-Reid S; Advanced Molecular Diagnostics Laboratory, The University Health Network, Toronto, Canada; Clinical Laboratory Genetics, The University Health Network, Toronto, Canada.
  • Stockley T; Advanced Molecular Diagnostics Laboratory, The University Health Network, Toronto, Canada; Clinical Laboratory Genetics, The University Health Network, Toronto, Canada.
  • Bernardini MQ; Gynecologic Oncology, The University Health Network, Toronto, Canada; Department of Obstetrics and Gynecology, University of Toronto, Toronto, Canada. Electronic address: Marcus.bernardini@uhn.ca.
Gynecol Oncol ; 162(1): 97-106, 2021 07.
Article em En | MEDLINE | ID: mdl-33858678
ABSTRACT

BACKGROUND:

Up to 20% of high-grade serous ovarian carcinomas (HGSOC) are hereditary; however, historical uptake of genetic testing is low. We used a unique combination of approaches to identify women in Ontario, Canada, with a first-degree relative (FDR) who died from HGSOC without prior genetic testing, and offer them multi-gene panel testing.

METHODS:

From May 2015-Sept 2019, genetic counseling and testing was provided to eligible participants. Two recruitment strategies were employed, including self-identification in response to an outreach campaign and direct targeting of FDRs of deceased HGSOC patients treated at our institution. The rate of pathogenic variants (PV) in established/potential ovarian cancer risk genes and the benefits/challenges of each approach were assessed.

RESULTS:

A total of 564 women enrolled in response to our outreach campaign (n = 473) or direct recruitment (n = 91). Mean age at consent was 52 years and 96% did not meet provincial testing criteria. Genetic results were provided to 528 individuals from 458 families. The rate of PVs in ovarian cancer risk genes was highest when FDRs were diagnosed with HGSOC <60 years (9.4% vs. 3.9% ≥ 60y, p = 0.0160). Participants in the outreach vs. direct recruitment cohort had a similar rate of PVs; however, uptake of genetic testing (97% vs. 89%; p = 0.0036) and study completion (95% vs. 87%; p = 0.0062) rates were higher in the former. Eleven participants with pathogenic variants have completed risk-reducing gynecologic surgery, with one stage I HGSOC and two breast cancers identified.

CONCLUSION:

Overall PV rates in this large cohort were lower than expected; however, we provide evidence that genetic testing criteria in Ontario should include individuals with a deceased FDR diagnosed with HGSOC <60 years of age.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Testes Genéticos / Carcinoma Epitelial do Ovário Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Gynecol Oncol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Testes Genéticos / Carcinoma Epitelial do Ovário Tipo de estudo: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Middle aged País/Região como assunto: America do norte Idioma: En Revista: Gynecol Oncol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Canadá