Introduction/Background Ovarian cancer(OC) is a clinical presentation of hereditary breast ovarian cancer syndrome (HBOC), which is an inherited genetic condition with high life time risk of breast and OC. The germline mutation testing guided by histology of the ovarian cancer is found to have been superior in detecting critical HBOC mutations, compared to the conventional family history approach. The mainstreaming of the mutation testing is more practical in the era of fast growing application and availability of PARP inhibitors across the continents. Here we present our experience of germline mutation testing in OC patients in our clinic through these paradigm shift.
Methodology The monthly Family Clinic for Women’s cancer was conducted by two oncologists, one each from the breast team and gynaecology teams, with psycho- oncology support and an outsourced genetic counsellor from 2015 onwards till March 2019. Indications for referral for women with ovarian cancer were listed and circulated among the departments. Results were collected prospectively in a Redcap database.
As PARP inhibitors were made available for use in our Centre, the gynaecological oncology and medical oncology team needed to counsel their own patients on a more regular basis for treatment purpose.
Results In 415 patients with ovarian cancer who underwent germline mutation testing from 2015 t0 2022 middle, the average age of testing was 52.7 years. 182 patients had normal results.
Pathogenic and likely pathogenic BRCA mutations was identified in 131 patients (31.6%), with BRCA 1 in 95 ( 22.9%), BRCA 2 in 36 (8.7%), and variants of unknown significance in 77 (18.6%) patients. PARP inhibtors were used sparingly initially due to non availability and later due to high cost.
Conclusion The mainstreaming of counselling accelerated the testing in patients, but its effective use in treatment can only be possible through affordable pricing of the drug.
Disclosures NO conflict of interest
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