Genetic Testing of Samples From Deceased Patients With Tubo-ovarian Cancer to Inform Families of Identification of Pathogenic Variants

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As reported in the Journal of Clinical Oncology by Delahunty et al, an Australian pilot study of a genetic testing program (TRACEBACK) for deceased patients with tubo-ovarian cancer was successful in identifying pathogenic variants in samples from the patients, informing family, and engaging family members in genetic testing.

As stated by the investigators, “Although Australian testing rates are now high, pathogenic variants in patients with tubo-ovarian cancer whose diagnosis predated revised testing guidelines might have been missed. We assessed the feasibility of detecting pathogenic variants in this population to enable genetic risk reduction in relatives.”

Study Details

In the study, deceased probands were identified from research cohort studies, through a relative, and through gynecologic oncology clinics. DNA extracted from archival tissue or stored blood underwent panel sequencing of 10 risk-associated genes (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6, and PMS2). Testing of deceased probands identified through clinic records was performed with a consent waiver.

Key Findings

Eighty-five pathogenic variants were identified in 84 (11%) of 787 deceased probands. Of the 84, 60 (71%) had familial contacts that could be identified. Familial contacts of 39 (65%) of the 60 received written notification of results; follow-up verbal contact was made with 33 (85%) of the 39.

Among the 33 cases with verbal contact, four families were already aware of the pathogenic variant. For 29 families (88%), the genetic status had been unknown. Referral to a genetic service was accepted by 19 (66%) of the 29.

The investigators concluded, “We overcame ethical and logistic challenges to demonstrate that retrospective genetic testing to identify pathogenic variants in previously untested deceased probands with tubo-ovarian cancer is feasible. Understanding reasons for a family member’s decision to accept or decline a referral will be important for guiding future TRACEBACK projects.”

Kathryn Alsop, PhD, of the Peter MacCallum Cancer Centre, Melbourne, is the corresponding author for the Journal of Clinical Oncology article.

Disclosure: The study was supported by the Australian Government under the Public Health and Chronic Disease Grant Program and others. For full disclosures of the study authors, visit

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