Multi-Gene Panel Testing for Hereditary Cancer Predisposition Among Patients Sixty-Five Years and Above Diagnosed With Breast Cancer.

Autor:	Abdel-Razeq H; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan.; School of Medicine, the University of Jordan, Amman, Jordan., Tamimi F; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Sharaf B; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Nielsen SM; Invitae Corporation, San Francisco, CA, USA., Heald B; Invitae Corporation, San Francisco, CA, USA., Hatchell KE; Invitae Corporation, San Francisco, CA, USA., Esplin ED; Invitae Corporation, San Francisco, CA, USA., Bani Hani H; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Al-Azzam K; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Alkyam M; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Mustafa R; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan., Al-Atary A; Department of Internal Medicine, King Hussein Cancer Center, Amman, Jordan.
Jazyk:	angličtina
Zdroj:	World journal of oncology [World J Oncol] 2024 Oct; Vol. 15 (5), pp. 777-783. Date of Electronic Publication: 2024 Sep 16.
DOI:	10.14740/wjon1919
Abstrakt:	Background: The availability and affordability of germline genetic testing (GGT) has resulted in a broader utilization in daily clinical practice. However, adherence to testing guidelines is low, especially among older patients, where testing is often not offered. Methods: In this study, consecutive, newly diagnosed patients with breast cancer (BC) aged ≥ 65 years and eligible for GGT, as per the National Comprehensive Cancer Network (NCCN) guidelines (version 1, 2021), were invited to participate, from March 2021 to December 2022. Patients were offered a restricted (two- or 20-gene panel), or an expanded 84-gene panel. Results: During the study period, 204 patients were enrolled. The mean (standard deviation (SD)) age at BC diagnosis was 70.5 (5.13) years, ranging 65 - 81 years. All patients were Arab and the majority were Jordanian. The majority (n = 188, 92.2%) had early-stage (stages I and II) disease. One hundred three (50.5%) patients were tested with a restricted two-gene (n = 13) or 20-gene (n = 90) panel, while the remaining 101 (49.5%) patients had an expanded 84-gene panel. Family history of close blood relative(s) with BC was the most common indication for testing (n = 110, 53.9%). Among the entire study cohort, 22 (10.8%) had pathogenic/likely pathogenic germline variants (PGVs) and another 97 (47.5%) had ≥ 1 variants of uncertain significance (VUS). PGV rates were significantly higher with the expanded panel (14.9%) compared to restricted testing (6.8%) (P = 0.032). Similarly, VUS rates were significantly higher with the expanded panel (64.4%) compared to the restricted panel (31.1%) (P < 0.001). The most prevalent genes with PGVs were BRCA1/2 (31.3% of all PGV-positive patients), CHEK2 (23.1%) and ATM (19.2%). Conclusion: GGT should not be overlooked in older BC patients, as this study demonstrates that > 10% of patients have PGVs, largely in potentially actionable genes. Competing Interests: Sarah M. Nielsen, Brandie Heald, Kathryn E. Hatchell and Edward D. Esplin, are (or were) employees at Invitae corporation, San Francisco, CA, USA. All other authors declared no competing interests. (Copyright 2024, Abdel-Razeq et al.)
Databáze:	MEDLINE
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