Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood

Article Oncology

Germline Testing and Somatic Tumor Testing for BRCA1/2 Pathogenic Variants in Ovarian Cancer: What Is the Optimal Sequence of Testing?

Janice S. Kwon et al.

Summary: This study compares two testing strategies for newly diagnosed ovarian cancer and finds that tumor testing as triage for germline testing is a more cost-effective strategy.

JCO PRECISION ONCOLOGY (2022)

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Article Oncology

Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial

Celine Callens et al.

Summary: The PAOLA1 study evaluated the effectiveness of olaparib maintenance therapy in advanced high-grade ovarian carcinoma patients, with tBRCA testing showing to be a reliable tool with an acceptable turnaround time and low failure rate. The study also found that tBRCA testing revealed pathogenic variants in some French patients that were not detected by gBRCA testing.

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2021)

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Article Oncology

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Dhivya Chandrasekaran et al.

Summary: Multigene testing in ovarian cancer, especially after counselling by multidisciplinary clinical teams, shows a high uptake rate of 97% and identifies a significant proportion of patients with pathogenic variants such as BRCA1/BRCA2, RAD51C/RAD51D/BRIP1. Prospective parallel somatic and germline panel testing is recommended to maximize variant identification in cancer patients.

CANCERS (2021)

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Article Oncology

Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing

Nahed Jalloul et al.

Summary: Analyzing tumor-only sequencing data can help determine the germline or somatic status of variants, with high accuracy in inferring the types of variants. Variants in known hereditary tumor suppressors are more likely to have loss of heterozygosity in tumor specimens.

JCO PRECISION ONCOLOGY (2021)

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Article Oncology