Document Type : Case Report(s)
Authors
Department of Surgery, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
Abstract
The most common cancer in women is breast cancer (BC) with an incidence of 24.2%. BC in younger patients will in general be more forceful, prompting more awful results and a requirement for more forceful treatment which may bring about a higher probability of long-haul treatment-related harmfulness and novel psychosocial issues. Furthermore, family inclination to BC as BRCA1 and BRCA2 mutations is more prevalent in this age group. There were a total of five ladies who had tumor pathology testing with negative results. All intrusive BC examples were regularly assessed for estrogen receptor, progesterone receptor, and human epidermal growth factor receptor-2 (HER2)/neu status utilizing immunohistochemistry. Cases with HER2/neu staining of 1+, 2+ or 3+ on immunohistochemistry examination were additionally assessed by fluorescent in situ hybridization for the enhancement of the HER2/neu quality. In this examination, we distinguished clinicopathological attributes of patients with BC. We partitioned into two gatherings, BRCA positive change and BRCA negative transformation. Roughly 5%-10% instances of BC have a positive family ancestry and about 20%-40% BC development were in acquired variations. Our study revealed that 20% of cases included individuals who had a family history of BRCA mutation. Male relatives with BC, earlier age at onset, a greater prevalence of reciprocal breast disease, and a connection to various malignancies in the ovary, colon, prostate, pancreas, and endometrial are only a few of the clear clinical characteristics of BRCA1/2-related BC.
Keywords
How to cite this article:
Hermansyah D, Pricilia G, Simamora Y, Siregar DF. Clinicopathological characteristics of patients with BRCA mutation breast cancer in north sumatera: case report. Middle East J Cancer. 2023;14(2):332-7. doi: 10.30476/mejc.2022.92503.1659.
- World Health Organization. Global Health Estimates 2020: Deaths by Cause, Age, Sex, by Country and by Region, 2000-2019 [Internet]. WHO. 2020. Available from: http://who.int/data/gho/data/themes/mortalityand-global-health-estimates/ghe-leading-causes-of-death
- Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global Cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209-49. doi:10.3322/caac.21660.
- Fackenthal JD, Olopade OI. BC risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer. 2007;7(12):937-48. doi:10.1038/nrc2054.
- Ripperger T, Gadzicki D, Meindl A, Schelegelberger B. BC susceptibility: current knowledge and implications for genetic counselling. Eur J Hum Genet. 2009;17(6):722-31. doi:10.1038/ejhg.2008.212.
- Torre LA, Bray F, Siegel RL, Ferlay J, Lortet-Tiulent J, Jemal A. Global cancer statistics, 2012. CA Cancer J Clin. 2015;65(2):87-108. doi: 10.3322/caac.21262.
- Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62(3):676-89. doi:10.1086/301749.
- Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-30. doi:10.1086/375033.
- Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic / familial assessment: Breast and ovarian. Genet Couns. 2010;8(5):562-94.
- Gonzalez-Angulo AM, Timms KM, Liu S, Chen H, Litton JK, Potter J, et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17(5):1082-9. doi:10.1158/1078-0432.CCR-10-2560.
- Kwong A, Wong LP, Wong HN, Law FBF, Ng EKO, Tang YH, et al. Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer. Hugo J. 2009;3(1):63-76. doi:10.1007/s11568-010-9136-z.
- Shin HR, Carlos MC, Varghese C. Cancer control in the Asia Pacific region: Current status and concerns. Jpn J Clin Oncol. 2012;42(10):867-81. doi:10.1093/jjco/hys077.
- Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, et al. The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. Int J Cancer. 2017;141(1):129-42. doi: 10.1002/ijc.30692.
- Kim H, Choi DH. Distribution of BRCA1 and BRCA2 mutations in Asian patients with breast cancer. J Breast Cancer. 2013;16(4):357-65. doi: 10.4048/jbc.2013.16.4.357.
- Byung HS, Beom SK, Jeong KK, Hee JK, Soo JH, Jung SL, et al. Changing patterns in the clinical characteristics of Korean patients with breast cancer during the last 15 years. Arch Surg. 2006;141(2):155-60. doi:10.1001/archsurg.141.2.155.
- Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377(6):523-33. doi: 10.1056/NEJMoa170 6450. Erratum in: N Engl J Med. 2017;377(17 ):1700.
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