Seberapa Penting Pemeriksaan Gen pada Kanker Payudara

Oleh :

dr. Gabriele Jessica Kembuan

Mutasi genetik telah banyak dihubungkan dengan peningkatan risiko kanker payudara, , terutama terkait gen BRCA (the breast cancer gene). Pemeriksaan gen masih belum rutin dilakukan, baik saat skrining maupun diagnosis kanker payudara. Namun, terdapat berbagai studi yang mempelajari populasi yang harus diuji dan pilihan manajemen berdasarkan hasil pemeriksaan gen ini, apakah profilaksis mastektomi perlu dilakukan.[1,2]

Mutasi Gen pada Kanker Payudara

Berbagai studi kohort populasi telah menyimpulkan adanya asosiasi antara kanker payudara dengan mutasi gen-gen tertentu. Gen BRCA1 dan BRCA2 merupakan dua gen yang paling banyak diteliti terkait hubungannya yang kuat dengan kanker payudara.

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Referensi

1. Rooney MM, Miller KN, Plichta JK. Genetics of Breast Cancer: Risk Models, Who to Test, and Management Options. Surg Clin North Am. 2023 Feb;103(1):35-47.
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3. Hu C, Hart SN, et al. A population-based study of genes previously implicated in breast cancer. NEJM, 2021. 388: 440-451
4. Breast Cancer Association Consortium. Breast cancer risk genes- association analysis in more than 113.000 women. NEJM, 2021, 384: 428-439
5. Wong SM, Freedman RA, et al. Growing use of contralateral prophylactic mastectomy despite no improvement in long-term survival for invasive breast cancer. Ann Surg, 2017;265(3):581-589.
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8. Manahan E, Sebastian M, et al. The American Society of Breast Surgeons consensus guidelines on genetic testing for hereditary breast cancer. 2019.
9. Robson M, Im SA, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. NEJM, 2017;377(6):523-533.
10. Byrski T, Dent R, et al. Results of a phase II open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer. Breast Cancer Res, 2012;14(4):R110.
11. Grindedal EM, Heramb C, et al. Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer, 2017; 17(1):438.
12. Ariani Y, Soeharso P, et al. Genetics and genomic medicine in Indonesia. Molecular genetics & genomic medicine, 2017. 5(2): 103–109.
13. Tuffaha HW, Mitchell A, et al. Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers. Genet Med, 2018;20(9):985-994.
14. Sun L, Brentnall A, et al. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol, 2019.
15. Kurian AW, Ward KC, et al. Uptake, results, and outcomes of germline multiple-gene sequencing after diagnosis of breast cancer. JAMA Oncol, 2018;4(8):1066-1072.
16. Willoughby A, Andreassen PR, et al. Genetic Testing to Guide Risk-Stratified Screens for Breast Cancer. J Pers Med. 2019;9(1):15. Published 2019 Mar 1.
17. Start Mammograms at 40, Not 50, USPSTF Suggests. Cancer Discov. 2023 Jul 7;13(7):1506. doi: 10.1158/2159-8290.CD-NB2023-0040. PMID: 37227455.

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