Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients
Yıl: 2021 Cilt: 28 Sayı: 1 Sayfa Aralığı: 120 - 124 Metin Dili: İngilizce DOI: 10.5455/annalsmedres.2020.04.415 İndeks Tarihi: 28-06-2021
Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients
Öz: Aim: Hereditary breast cancer is one of the components of hereditary breast-over cancer syndrome (HBOC) that results with multiple cancer predisposition. Heterozygous mutations of BRCA1 and BRCA2 that have crucial roles in DNA repair are responsible for about 12-25% of the patients. 25 different genes have been identified to be a causal factor in the patients whose BRCA tests are negative. Most of these genes are involved in functionally related genome maintenance pathways with BRCA1 and BRCA2. We aimed to investigate genes other than BRCA1/2 to determine breast cancer etiology. Materials and Methods: Of the 230 patients diagnosed with breast cancer, 38 patients with no mutation in BRCA1 / 2 were evaluated. Hereditary breast cancer panel was designed with QIAseq solution. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight analyze software. Results: The genes associated with hereditary breast cancer were studied with the new generation sequencing method in 38 of the patients without pathogenic or VUS variants. Pathogenic/likely pathogenic variants were detected in 3 (7.8%) of 38 patients, while VUS was detected in 10 (26.3%) patients. Of these 22 genes, c.312C>A (p.Tyr90Ter) in MUTY, c.1225C>T (p.Arg409Trp) in STK11, c.1690C>T (p.Gln564Ter) variant in BARD1 interpreted as pathogenic.Conclusion: Our data provide insight into the genetics of HBOC syndrome in Turkey. These studies will help to improve the clinical management and better risk assessment of hereditary breast and ovarian cancer.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- 1. Bray F, Ferlay J, Soerjomataram I, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018;68:394-424.
- 2. Cobain EF, Milliron KJ, Merajver SD. Updates on breast cancer genetics: clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer. Semin Oncol 2016;43:528-35.
- 3. Wendt C, Margolin S. Identifying breast cancer susceptibility genes–a review of the genetic background in familial breast cancer. Acta Oncologica 2019;58:135-46.
- 4. Kast K, Rhiem K, Wappenschmidt B, et al. Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 2016;53:465- 71.
- 5. Nielsen FC, van Overeem Hansen T, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nature Reviews Cancer 2016;16:599.
- 6. Momenimovahed Z, Salehiniya H. Epidemiological characteristics of and risk factors for breast cancer in the world. Breast Cancer: Targets and Therapy 2019;11:151.
- 7. Akram Hussain S. Molecular-based screening and therapeutics of breast and ovarian cancer in low- and middle-income countries. Cancer Research, Statistics, and Treatment 2020;3:81-4.
- 8. King M-C, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003;302:643-6.
- 9. Daly MB, Pilarski R, Yurgelun MB, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020: Featured Updates to the NCCN Guidelines. J Natl Compr Canc Netw 2020;18:380-91.
- 10. Pal T, Agnese D, Daly M, et al. Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020;22:681-5.
- 11. Manahan ER, Kuerer HM, Sebastian M, et al. Consensus guidelines on genetictesting for hereditary breast Cancer from the American Society of Breast Surgeons. Ann Surg Oncol 2019;26:3025-31.
- 12. Kast K, Rhiem K, Wappenschmidt B, et al. Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 2016;53:465- 71.
- 13. Beck AC, Yuan H, Liao J, et al. Rate of BRCA mutation in patients tested under NCCN genetic testing criteria. Am J Surg 2020;219:145-9.
- 14. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24.
- 15. Couch FJ, Shimelis H, Hu C, et al. Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. JAMA Oncol 2017;3:1190-6.
- 16. Ratajska M, Antoszewska E, Piskorz A, et al. Cancer predisposing BARD1 mutations in breast-ovarian cancer families. Breast Cancer Res Treat. 2012;13:89- 97.
- 17. Sharma P, Klemp JR, Kimler BF, et al. Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat 2014;145:707-14.
- 18. Bahsi T, Erdem HB. Spectrum of BRCA1/BRCA2 variants in 1419 Turkish breast and ovarian cancer patients: a single center study. Turk J Biochem 2020;45:83–90.
- 19. Grindedal EM, Heramb C, Karsrud I, et al. Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer 2017;17:438.
- 20. Thibodeau ML, Zhao EY, Reisle C, et al. Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis. Cold Spring Harb Mol Case Stud 2019;5
- 21. Couch FJ, Hart SN, Sharma P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 2015;33:304-11.
- 22. Karppinen SM, Heikkinen K, Rapakko K, et al. Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. J Med Genet 2004;41:e114.
- 23. Crawford B, Adams SB, Sittler T, et al. Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. Breast Cancer Res Treat 2017;163:383-90.
- 24. Tsaousis GN, Papadopoulou E, Apessos A, et al. Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. BMC Cancer 2019;19:535.
- 25. Erdem HB, Bahsi T. Multigene panel testing for hereditary breast cancer: An analysis of 70 BRCAnegative Turkish patients. Cumhuriyet Med J 2019;41:569-75.
| APA | CEYLAN A, Çavdarlı B (2021). Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. , 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| Chicago | CEYLAN Ahmet Cevdet,Çavdarlı Büşranur Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. (2021): 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| MLA | CEYLAN Ahmet Cevdet,Çavdarlı Büşranur Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. , 2021, ss.120 - 124. 10.5455/annalsmedres.2020.04.415 |
| AMA | CEYLAN A,Çavdarlı B Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. . 2021; 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| Vancouver | CEYLAN A,Çavdarlı B Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. . 2021; 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| IEEE | CEYLAN A,Çavdarlı B "Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients." , ss.120 - 124, 2021. 10.5455/annalsmedres.2020.04.415 |
| ISNAD | CEYLAN, Ahmet Cevdet - Çavdarlı, Büşranur. "Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients". (2021), 120-124. https://doi.org/10.5455/annalsmedres.2020.04.415 |
| APA | CEYLAN A, Çavdarlı B (2021). Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. Annals of Medical Research, 28(1), 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| Chicago | CEYLAN Ahmet Cevdet,Çavdarlı Büşranur Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. Annals of Medical Research 28, no.1 (2021): 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| MLA | CEYLAN Ahmet Cevdet,Çavdarlı Büşranur Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. Annals of Medical Research, vol.28, no.1, 2021, ss.120 - 124. 10.5455/annalsmedres.2020.04.415 |
| AMA | CEYLAN A,Çavdarlı B Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. Annals of Medical Research. 2021; 28(1): 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| Vancouver | CEYLAN A,Çavdarlı B Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients. Annals of Medical Research. 2021; 28(1): 120 - 124. 10.5455/annalsmedres.2020.04.415 |
| IEEE | CEYLAN A,Çavdarlı B "Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients." Annals of Medical Research, 28, ss.120 - 124, 2021. 10.5455/annalsmedres.2020.04.415 |
| ISNAD | CEYLAN, Ahmet Cevdet - Çavdarlı, Büşranur. "Stepwise approach to hereditary breast cancer and evaluation of BRCA negative patients". Annals of Medical Research 28/1 (2021), 120-124. https://doi.org/10.5455/annalsmedres.2020.04.415 |
