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REVIEW

Current trends in breast cancer genetics, risk factors, and screening strategies

Sorana Caterina Anton1† ,  Alexandra Lazan1† ,  Mihaela Grigore1 ,  Ciprian Ilea1 ,  Șadiye-Ioana Scripcariu1 ,  Setalia Popa2 ,  Simona Volovăț3 ,  Bogdan Doroftei1 ,  Delia Nicolaiciuc4†* ,  Diana Popovici1 ,  Gabriel Costăchescu1 ,  Ovidiu Sebastian Nicolaiciuc5 ,  Emil Anton1
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1 Department of Obstetrics and Gynecology, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa,” Iași 700115, Romania
2 Department of Medical Genetics, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa,” Iași 700115, Romania
3 Department of Medical Oncology, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa,” Iași 700115, Romania
4 Department of Preventive Medicine and Interdisciplinarity, Faculty of Medicine, University of Medicine and Pharmacy “Grigore T. Popa,” Iași 700115, Romania
5 Department of Implantology, Removable Restorations, and Technology, Faculty of Dental Medicine, University of Medicine and Pharmacy “Grigore T. Popa,” Iași 700115, Romania
JBM, e99010054 https://doi.org/10.14440/jbm.2025.0079
Submitted: 4 September 2024 | Revised: 27 January 2025 | Accepted: 14 February 2025 | Published: 13 March 2025
© 2025 by the Journal of Biological Methods published by POL Scientific. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Background: Breast cancer is the most frequently diagnosed female malignancy worldwide and one of the primary causes of cancer-related mortality in women. According to the latest the World Health Organization data, it was the most common cancer in 157 out of 185 countries and was culpable for an estimated 670,000 deaths in 2023. With breast cancer incidence continuing to increase, there is a mounting interest in early detection and prevention, with a focus particularly directed on genetic factors, modifiable risk factors, and screening methods. Objective: This review aimed to examine the genetic landscape of breast cancer, the role of risk factors in disease development, and the importance of advancing diagnostic modalities for early detection. A comprehensive search and analysis of peer-reviewed articles and clinical studies from major medical databases were conducted to assess the most recent advancements and discoveries in the field. The literature review identified several modifiable and non-modifiable risk factors, including genetic predispositions (e.g., BRCA mutations), hormonal influences, lifestyle factors, and reproductive patterns. Conclusion: By synthesizing current knowledge, this review enhances the understanding of breast cancer’s multifactorial nature and provides insights to guide future research on screening strategies and preventive measures.

Keywords
Breast cancer
Breast cancer screening
Risk factors
Breast genetics
Prognostic markers
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
References
  1. Swanton C, Bernard E, Abbosh C, et al. Embracing cancer complexity: Hallmarks of systemic disease. Cell. 2024;187(7):1589-1616. doi: 10.1016/j.cell.2024.02.009

 

  1. Sung H, Ferlay J, Siegel RL, 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):209-249. doi: 10.3322/caac.21660

 

  1. Bellanger M, Zeinomar N, Tehranifar P, Terry MB. Are global breast cancer incidence and mortality patterns related to country-specific economic development and prevention strategies? J Glob Oncol. 2018;4:1-16. doi: 10.1200/JGO.17.00207

 

  1. Francies FZ, Hull R, Khanyile R, Dlamini Z. Breast cancer in low-middle income countries: Abnormality in splicing and lack of targeted treatment options. Am J Cancer Res. 2020;10(5):1568-1591.

 

  1. American Cancer Society. Key Statistics for Breast Cancer. Available from: https://www.cancer.org/cancer/breast-cancer/ about/how-common-is-breast-cancer.html [Last accessed on 2024 Oct 30].

 

  1. Arnold M, Morgan E, Rumgay H, et al. Current and future burden of breast cancer: Global statistics for 2020 and 2040. Breast. 2022;66:15-23. doi: 10.1016/j.breast.2022.08.010

 

  1. PDQ Adult Treatment Editorial Board. Breast Cancer Treatment (PDQ®): Patient Version 2024. In: PDQ Cancer Information Summaries. Bethesda, MD: National Cancer Institute (US); 2002. Available from: https://www.ncbi.nlm.nih.gov/books/ NBK65969 [Last accessed on 2024 Oct 30].

 

  1. Sinha T. Tumors: Benign and malignant. Cancer Ther Oncol Int J. 2018;10:555790.

 

  1. Obeagu EI, Ahmed YA, Obeagu GU, et al. Biomarkers of breast cancer: Overview. Int J Curr Res Biol Med. 2023;8:8-16. doi: 10.22192/ijcrbm.2023.08.01.002

 

  1. Jagsi R, Mason G, Overmoyer BA, et al. Inflammatory breast cancer defined: Proposed common diagnostic criteria to guide treatment and research [published correction appears in Breast Cancer Res Treat. 2022;192(2):245-247. doi: 10.1007/s10549-022-06534-2]. Breast Cancer Res Treat. 2022;192(2):235-243. doi: 10.1007/s10549-021-06434-x

 

  1. Henry NL, Cannon-Albright LA. Breast cancer histologic subtypes show excess familial clustering. Cancer. 2019;125(18):3131-3138. doi: 10.1002/cncr.32198

 

  1. Orrantia-Borunda E, Anchondo-Nuñez P, Acuña-Aguilar LE, et al. Subtypes of Breast Cancer. In: Mayrovitz HN, editor. Breast Cancer. Ch. 3. Brisbane, AU: Exon Publications; 2022. Available from: https://www.ncbi.nlm.nih.gov/books/ nbk583808 [Last accessed on 2024 Oct 30]. doi: 10.36255/exon-publications-breast-cancer-subtypes

 

  1. Ibekwe AM, Obeagu EI, Ibekwe CE, et al. Challenges of exclusive breastfeeding among working class women in a teaching hospital South East, Nigeria. J. Pharm. Res. Int. 2022;34(46A):1-10. doi: 10.9734/jpri/2022/v34i46A36371

 

  1. Sun YS, Zhao Z, Yang ZN, et al. Risk factors and preventions of breast cancer. Int J Biol Sci. 2017;13(11):1387-1397. doi: 10.7150/ijbs.21635

 

  1. Religioni U. Cancer incidence and mortality in Poland. Clin Epidemiol Glob Hearth. 2020;8:329-334. doi: 10.1016/j.cegh.2019.12.014

 

  1. Endogenous Hormones and Breast Cancer Collaborative Group, Key TJ, Appleby PN, et al. Sex hormones and risk of breast cancer in premenopausal women: A collaborative reanalysis of individual participant data from seven prospective studies. Lancet Oncol. 2013;14(10):1009-1019. doi: 10.1016/S1470-2045(13)70301-2

 

  1. Zhang X, Tworoger SS, Eliassen AH, Hankinson SE. Postmenopausal plasma sex hormone levels and breast cancer risk over 20 years of follow-up. Breast Cancer Res Treat. 2013;137(3):883-892. doi: 10.1007/s10549-012-2391-z

 

  1. Giordano SH. Breast Cancer in Men. N Engl J Med. 2018;378(24):2311-2320. doi: 10.1056/NEJMra1707939

 

  1. Key TJ, Appleby PN, Reeves GK, et al. Steroid hormone measurements from different types of assays in relation to body mass index and breast cancer risk in postmenopausal women: Reanalysis of eighteen prospective studies. Steroids. 2015;99(Pt A):49-55. doi: 10.1016/j.steroids.2014.09.001

 

  1. Wang M, Wu X, Chai F, Zhang Y, Jiang J. Plasma prolactin and breast cancer risk: A metaanalysis. Sci Rep. 2016;6:25998. doi: 10.1038/srep25998

 

  1. Sampson JN, Falk RT, Schairer C, et al. Association of estrogen metabolism with breast cancer risk in different cohorts of postmenopausal women. Cancer Res. 2017;77(4):918-925. doi: 10.1158/0008-5472.CAN-16-1717

 

  1. Ge W, Clendenen TV, Afanasyeva Y, et al. Circulating anti- Müllerian hormone and breast cancer risk: A study in ten prospective cohorts. Int J Cancer. 2018;142(11):2215-2226. doi: 10.1002/ijc.31249

 

  1. Murphy N, Knuppel A, Papadimitriou N, et al. Insulin-like growth factor-1, insulin-like growth factor-binding protein-3, and breast cancer risk: Observational and Mendelian randomization analyses with ∼430 000 women. Ann Oncol. 2020;31(5):641-649. doi: 10.1016/j.annonc.2020.01.066

 

  1. Shen J, Hernandez D, Ye Y, Wu X, Chow WH, Zhao H. Metabolic hormones and breast cancer risk among Mexican American Women in the Mano a Mano Cohort Study. Sci Rep. 2019;9(1):9989. doi: 10.1038/s41598-019-46429-9

 

  1. Lima SM, Kehm RD, Terry MB. Global breast cancer incidence and mortality trends by region, age-groups, and fertility patterns. EClinicalMedicine. 2021;38:100985. doi: 10.1016/j.eclinm.2021.100985

 

  1. Łukasiewicz S, Czeczelewski M, Forma A, Baj J, Sitarz R, Stanisławek A. Breast cancer epidemiology, risk factors, classification, prognostic markers, and current treatment strategies-an updated review. Cancers (Basel). 2021;13(17):4287. doi: 10.3390/cancers13174287

 

  1. Surveillance Research Program, National Cancer Institute. SEER*Explorer. Breast Cancer Breast Cancer Median Age at Diagnosis 2017-2021, by Race/Ethnicity, Female; 2024. Available from: https://seer.cancer.gov/explorer; https://www.komen.org/ breast-cancer/risk-factor/age [Last accessed on 2024 Apr 23].

 

  1. Yedjou CG, Sims JN, Miele L, et al. Health and racial disparity in breast cancer. Adv Exp Med Biol. 2019;1152:31-49. doi: 10.1007/978-3-030-20301-6_3

 

  1. Du XL, Li Z. Incidence trends in triple-negative breast cancer among women in the United States from 2010 to 2019 by race/ethnicity, age and tumor stage. Am J Cancer Res. 2023;13(2):678-691.

 

  1. Islami F, Liu Y, Jemal A, et al. Breastfeeding and breast cancer risk by receptor status--a systematic review and meta-analysis. Ann Oncol. 2015;26(12):2398-2407. doi: 10.1093/annonc/mdv379

 

  1. Quintero SM, Strassle PD, Londoño Tobón A, et al. Race/ ethnicity-specific associations between breastfeeding information source and breastfeeding rates among U.S. women. BMC Public Health. 2023;23(1):520. doi: 10.1186/s12889-023-15447-8

 

  1. Woolcott CG, Shvetsov YB, Stanczyk FZ, et al. Plasma sex hormone concentrations and breast cancer risk in an ethnically diverse population of postmenopausal women: The multiethnic cohort study. Endocr Relat Cancer. 2010;17(1):125-134. doi: 10.1677/ERC-09-0211

 

  1. Ghoncheh M, Pournamdar Z, Salehiniya H. Incidence and mortality and epidemiology of breast cancer in the world. Asian Pac J Cancer Prev. 2016;17(S3):43-46. doi: 10.7314/apjcp.2016.17.s3.43

 

  1. Heer E, Harper A, Escandor N, Sung H, McCormack V, Fidler- Benaoudia MM. Global burden and trends in premenopausal and postmenopausal breast cancer: A population-based study. Lancet Glob Health. 2020;8(8):e1027-e1037. doi: 10.1016/S2214-109X(20)30215-1

 

  1. Wu HC, Do C, Andrulis IL, et al. Breast cancer family history and allele-specific DNA methylation in the legacy girls study. Epigenetics. 2018;13(3):240-250. doi: 10.1080/15592294.2018.1435243

 

  1. Reiner AS, Sisti J, John EM, et al. Breast cancer family history and contralateral breast cancer risk in young women: An update from the women’s environmental cancer and radiation epidemiology study. J Clin Oncol. 2018;36(15):1513-1520. doi: 10.1200/JCO.2017.77.3424

 

  1. Baglia ML, Tang MC, Malone KE, Porter P, Li CI. Family history and risk of second primary breast cancer after in situ breast carcinoma. Cancer Epidemiol Biomarkers Prev. 2018;27(3):315-320. doi: 10.1158/1055-9965.EPI-17-0837

 

  1. Brewer HR, Jones ME, Schoemaker MJ, Ashworth A, Swerdlow AJ. Family history and risk of breast cancer: An analysis accounting for family structure. Breast Cancer Res Treat. 2017;165(1):193-200. doi: 10.1007/s10549-017-4325-2

 

  1. Husby A, Wohlfahrt J, Øyen N, Melbye M. Pregnancy duration and breast cancer risk. Nat Commun. 2018;9(1):4255. doi: 10.1038/s41467-018-06748-3

 

  1. Ng J, Shuryak I. Minimizing second cancer risk following radiotherapy: Current perspectives. Cancer Manag Res. 2014;7:1-11. doi: 10.2147/CMAR.S47220

 

  1. Zhang Q, Liu J, Ao N, et al. Secondary cancer risk after radiation therapy for breast cancer with different radiotherapy techniques. Sci Rep. 2020;10(1):1220. doi: 10.1038/s41598-020-58134-z

 

  1. Bodewes FTH, Van Asselt AA, Dorrius MD, Greuter MJW, De Bock GH. Mammographic breast density and the risk of breast cancer: A systematic review and meta-analysis. Breast. 2022;66:62-68. doi: 10.1016/j.breast.2022.09.007

 

  1. Duffy SW, Morrish OWE, Allgood PC, et al. Mammographic density and breast cancer risk in breast screening assessment cases and women with a family history of breast cancer. Eur J Cancer. 2018;88:48-56. doi: 10.1016/j.ejca.2017.10.022

 

  1. Han MA, Zeraatkar D, Guyatt GH, et al. Reduction of red and processed meat intake and cancer mortality and incidence: A systematic review and meta-analysis of cohort studies. Ann Intern Med. 2019;171(10):711-720. doi: 10.7326/M19-0699

 

  1. Hidayat K, Chen GC, Zhang R, et al. Calcium intake and breast cancer risk: Meta-analysis of prospective cohort studies. Br J Nutr. 2016;116(1):158-166. doi: 10.1017/S0007114516001768

 

  1. Estébanez N, Gómez-Acebo I, Palazuelos C, Llorca J, Dierssen- Sotos T. Vitamin D exposure and risk of breast cancer: A meta-analysis. Sci Rep. 2018;8(1):9039. doi: 10.1038/s41598-018-27297-1

 

  1. Chang VC, Cotterchio M, Khoo E. Iron intake, body iron status, and risk of breast cancer: A systematic review and meta-analysis. BMC Cancer. 2019;19(1):543. doi: 10.1186/s12885-019-5642-0

 

  1. Yu L, Tan Y, Zhu L. Dietary vitamin B2 intake and breast cancer risk: A systematic review and meta-analysis. Arch Gynecol Obstet. 2017;295(3):721-729. doi: 10.1007/s00404-016-4278-42

 

  1. Li MJ, Yin YC, Wang J, Jiang YF. Green tea compounds in breast cancer prevention and treatment. World J Clin Oncol. 2014;5(3):520-528. doi: 10.5306/wjco.v5.i3.520

 

  1. Liu D, Chen Z. The effect of curcumin on breast cancer cells. J Breast Cancer. 2013;16(2):133-137. doi: 10.4048/jbc.2013.16.2.133

 

  1. Gehlert S, Clanton M, On Behalf Of The Shift Work and Breast Cancer Strategic Advisory Group. Shift work and breast cancer. Int J Environ Res Public Health. 2020;17(24):9544. doi: 10.3390/ijerph17249544

 

  1. Emet M, Ozcan H, Ozel L, Yayla M, Halici Z, Hacimuftuoglu A. A review of melatonin, its receptors and drugs. Eurasian J Med. 2016;48(2):135-141. doi: 10.5152/eurasianjmed. 2015.0267

 

  1. Maas MB, Lizza BD, Abbott SM, et al. Factors disrupting melatonin secretion rhythms during critical illness. Crit Care Med. 2020;48(6):854-861. doi: 10.1097/CCM. 0000000000004333

 

  1. Lu J, Zou R, Yang Y, et al. Association between nocturnal light exposure and melatonin in humans: A meta-analysis. Environ Sci Pollut Res Int. 2024;31(3):3425-3434. doi: 10.1007/s11356-023-31502-8

 

  1. Cho Y, Ryu SH, Lee BR, Kim KH, Lee E, Choi J. Effects of artificial light at night on human health: A literature review of observational and experimental studies applied to exposure assessment. Chronobiol Int. 2015;32(9):1294-1310. doi: 10.3109/07420528.2015.1073158

 

  1. Schernhammer E, Bogl L, Hublin C, et al. The association between night shift work and breast cancer risk in the Finnish twins cohort. Eur J Epidemiol. 2023;38(5):533-543. doi: 10.1007/s10654-023-00983-9

 

  1. Videnros C, Selander J, Wiebert P, et al. Investigating the risk of breast cancer among women exposed to chemicals: A nested case-control study using improved exposure estimates. Int Arch Occup Environ Health. 2020;93(2):261-269. doi: 10.1007/s00420-019-01479-4

 

  1. Rodgers KM, Udesky JO, Rudel RA, Brody JG. Environmental chemicals and breast cancer: An updated review of epidemiological literature informed by biological mechanisms. Environ Res. 2018;160:152-182. doi: 10.1016/j.envres.2017.08.045

 

  1. Zeinomar N, Knight JA, Genkinger JM, et al. Alcohol consumption, cigarette smoking, and familial breast cancer risk: Findings from the Prospective family study cohort (ProFSC). Breast Cancer Res. 2019;21(1):128. doi: 10.1186/s13058-019-1213-1

 

  1. Erol A, Ho AM, Winham SJ, Karpyak VM. Sex hormones in alcohol consumption: A systematic review of evidence. Addict Biol. 2019;24(2):157-169. doi: 10.1111/adb.12589

 

  1. World Cancer Research Fund, American Institute for Cancer Research. Continuous Update Project Expert Report. Diet, Nutrition, Physical Activity and Breast Cancer: A Global Perspective. Available from: https://www.wcrf.org/ dietandcancer/about [Last accessed on 2024 Oct 30].

 

  1. National Institute on Alcohol Abuse and Alcoholism. What is a Standard Drink? Available from: https://www-niaaa-nih-gov.dbproxy.umfiasi.ro/alcohol-health/overview-alcohol-consumption/w [Last accessed on 2024 Oct 30].

 

  1. Masala G, Bendinelli B, Assedi M, et al. Up to one-third of breast cancer cases in postmenopausal Mediterranean women might be avoided by modifying lifestyle habits: The EPIC Italy study. Breast Cancer Res Treat. 2017;161(2):311-320. doi: 10.1007/s10549-016-4047-x

 

  1. Fagherazzi G, Vilier A, Boutron-Ruault MC, Mesrine S, Clavel-Chapelon F. Alcohol consumption and breast cancer risk subtypes in the E3N-EPIC cohort. Eur J Cancer Prev. 2015;24(3):209-214. doi: 10.1097/CEJ.0000000000000031

 

  1. Arthur RS, Wang T, Xue X, Kamensky V, Rohan TE. Genetic factors, adherence to healthy lifestyle behavior, and risk of invasive breast cancer among women in the UK Biobank [published correction appears in J Natl Cancer Inst. 2020;112(10):1076. doi: 10.1093/jnci/djaa085]. J Natl Cancer Inst. 2020;112(9):893-901. doi: 10.1093/jnci/djz241

 

  1. Bjerkaas E, Parajuli R, Weiderpass E, et al. Smoking duration before first childbirth: an emerging risk factor for breast cancer? Results from 302,865 Norwegian women. Cancer Causes Control. 2013;24(7):1347-1356. doi: 10.1007/s10552-013-0213-1

 

  1. Catsburg C, Miller AB, Rohan TE. Active cigarette smoking and risk of breast cancer. Int J Cancer. 2015;136(9):2204-2209. doi: 10.1002/ijc.29266

 

  1. Macacu A, Autier P, Boniol M, Boyle P. Active and passive smoking and risk of breast cancer: A meta-analysis. Breast Cancer Res Treat. 2015;154(2):213-224. doi: 10.1007/s10549-015-3628-4

 

  1. Warner ET, Hu R, Collins LC, et al. Height and body size in childhood, adolescence, and young adulthood and breast cancer risk according to molecular subtype in the nurses’ health studies. Cancer Prev Res (Phila). 2016;9(9):732-738. doi: 10.1158/1940-6207.CAPR-16-0085

 

  1. Chen Y, Liu L, Zhou Q, et al. Body mass index had different effects on premenopausal and postmenopausal breast cancer risks: A dose-response meta-analysis with 3,318,796 subjects from 31 cohort studies. BMC Public Health. 2017;17(1):936. doi: 10.1186/s12889-017-4953-9

 

  1. Huang X, Cheng H, Deng L, et al. Weight-adjusted-waist index: An innovative indicator of breast cancer hazard. BMC Womens Health. 2024;24(1):660. doi: 10.1186/s12905-024-03507-z

 

  1. Zhang B, Shu XO, Delahanty RJ, et al. Height and breast cancer risk: Evidence from prospective studies and Mendelian randomization. J Natl Cancer Inst. 2015;107(11):djv219. doi: 10.1093/jnci/djv219

 

  1. Kyanko KA, Hoag J, Busch SH, et al. Dense breast notification laws, education, and women’s awareness and knowledge of breast density: A nationally representative survey. J Gen Intern Med. 2020;35(7):1940-1945. doi: 10.1007/s11606-019-05590-7

 

  1. Gierisch JM, Coeytaux RR, Urrutia RP, et al. Oral contraceptive use and risk of breast, cervical, colorectal, and endometrial cancers: A systematic review. Cancer Epidemiol Biomarkers Prev. 2013;22(11):1931-1943. doi: 10.1158/1055-9965.EPI-13-0298

 

  1. Collaborative Group on Hormonal Factors in Breast Cancer. Type and timing of menopausal hormone therapy and breast cancer risk: individual participant meta-analysis of the worldwide epidemiological evidence. Lancet. 2019;394(10204):1159-1168. doi: 10.1016/S0140-6736(19)31709-X

 

  1. Freund R, Kelsberg G, Safranek S. Clinical inquiry: Do oral contraceptives put women with a family history of breast cancer at increased risk? J Fam Pract. 2014;63(9):540-549.

 

  1. Fitzpatrick D, Pirie K, Reeves G, Green J, Beral V. Combined and progestagen-only hormonal contraceptives and breast cancer risk: A UK nested case-control study and meta-analysis. PLoS Med. 2023;20(3):e1004188. doi:10.1371/journal.pmed.1004188

 

  1. Jordan VC. The new biology of estrogen-induced apoptosis applied to treat and prevent breast cancer. Endocr Relat Cancer. 2015;22(1):R1-R31. doi: 10.1530/ERC-14-0448

 

  1. IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Outdoor air pollution. IARC Monogr Eval Carcinog Risks Hum. 2016;109:9-444.

 

  1. Cheng I, Tseng C, Wu J, et al. Association between ambient air pollution and breast cancer risk: The multiethnic cohort study. Int J Cancer. 2020;146(3):699-711. doi: 10.1002/ijc.32308

 

  1. Smotherman C, Sprague B, DattaS, BraithwaiteD, Qin H, YaghjyanL. Association of air pollution with postmenopausal breast cancer risk in UK Biobank. Breast Cancer Res. 2023;25(1):83. doi: 10.1186/s13058-023-01681-w

 

  1. Shaddick G, Thomas ML, Mudu P, Ruggeri G, Gumy S. Half the world’s population are exposed to increasing air pollution. NPJ Clim Atmos Sci. 2020;3(1):23. doi: 10.1038/s41612-020-0124-2

 

  1. Praud D, Deygas F, Amadou A, et al. Traffic-related air pollution and breast cancer risk: A systematic review and meta-analysis of observational studies. Cancers (Basel). 2023;15(3):927. doi: 10.3390/cancers15030927

 

  1. Lemarchand C, Gabet S, Cénée S, Tvardik N, Slama R, Guénel P. Breast cancer risk in relation to ambient concentrations of nitrogen dioxide and particulate matter: Results of a population-based case-control study corrected for potential selection bias (the CECILE study). Environ Int. 2021;155:106604. doi: 10.1016/j.envint.2021.106604

 

  1. Xiao Q, Mao X, Ploner A, et al. Cancer risks among first-degree relatives of women with a genetic predisposition to breast cancer. J Natl Cancer Inst. 2024;116(6):911-919. doi: 10.1093/jnci/djae030

 

  1. Olunuga EJ, Thomas SM, Ntowe KW, et al. The association of genetic testing timing and mutation type on breast cancer management in patients with breast cancer-related mutations. Am J Surg. 2025;239:116005. doi: 10.1016/j.amjsurg.2024.116005

 

  1. American Cancer Society. What are the Risk Factors for Breast Cancer?; 2014. Available from: https://www.cancer. org/cancer/breastcancer/detailedguide/breast-cancer-risk-factors [Last accessed on 2024 Oct 29].

 

  1. Park SS. Gene patents and the public interest: Litigating association for molecular pathology v. Myriad genetics and lessons moving forward. NC J Law Technol. 2014;15(4):519-536.

 

  1. National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 2; 2014. Avaialble from: https://www.nccn.org/professionals/physician_gls/pdf/ genetics_screening.pdf [Last accessed on 2024 Oct 29].

 

  1. Jang SY, Kwak Y, Choi JY, et al. The effects of national insurance coverage expansion and genetic counseling’s role on BRCA1/2 mutation tests in breast cancer patients. Cancers (Basel). 2024;16(10):1865. doi: 10.3390/cancers16101865

 

  1. Zhu JW, Charkhchi P, Adekunte S, Akbari MR. What is known about breast cancer in young women? Cancers (Basel). 2023;15(6):1917. doi: 10.3390/cancers15061917

 

  1. Beijing Genomics Institute. Do you Know Gene Mutations Can Higher Risk of Breast Cancer? BGI Insight. Available from: https://www.bgi.com/global/news/the-incidence-of-early-onset-breast-cancershas-increased-globally---learn-with-bgi [Last accessed on 2024 Oct 29].

 

  1. Facing Our Risk of Cancer Empowered. Cancer Risk, Screening, Prevention and Treatment for People with Inherited Mutations. Available from: https://www.facingourrisk.org/info/ hereditary-cancerand-genetic-testing/hereditary-cancer-genes-and-risk/genes-by-name [Last accessed on 2024 Oct 29].

 

  1. Sasanuma H, Tsuda M, Morimoto S, et al. BRCA1 ensures genome integrity by eliminating estrogen-induced pathological topoisomerase II-DNA complexes. Proc Natl Acad Sci USA. 2018;115(45):E10642-E10651. doi: 10.1073/pnas.1803177115

 

  1. Landrum MJ, Lee JM, Benson M, et al. ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153

 

  1. Nepomuceno TC, Foo TK, Richardson ME, et al. BRCA1 frameshift variants leading to extended incorrect protein C termini. HGG Adv. 2024;5(3):100296. doi: 10.1016/j.xhgg.2024.100296

 

  1. Rebbeck TR, Mitra N, Wan F, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer [published correction appears in JAMA. 2015;314(6):628. doi: 10.1001/jama.2015.7352]. JAMA. 2015;313(13):1347-1361. doi: 10.1001/jama.2014.5985

 

  1. Narod SA. Which genes for hereditary breast cancer? N Engl J Med. 2021;384(5):471-473. doi: 10.1056/NEJMe2035083

 

  1. Figueiredo J, Melo S, Carneiro P, et al. Clinical spectrum and pleiotropic nature of CDH1 germline mutations. J Med Genet. 2019;56(4):199-208. doi: 10.1136/jmedgenet-2018-105807

 

  1. Corso G, Figueiredo J, La Vecchia C, et al. Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect. J Med Genet. 2018;55(7):431-441. doi: 10.1136/jmedgenet-2018-105337

 

  1. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497-506. doi: 10.1056/NEJMoa1400382

 

  1. Fairoosa P, Witharana C. Gene mutations in hereditary breast cancer-a review. Eur J Med Health Sci. 2020;2(3). doi: 10.24018/ejmed.2020.2.3.286

 

  1. Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG, European Reference Network GENTURIS. Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet. 2020;28(10):1379-1386. doi: 10.1038/s41431-020-0638-4

 

  1. Renaux-Petel M, Charbonnier F, Théry JC, et al. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. J Med Genet. 2018;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976

 

  1. Choi M, Kipps T, Kurzrock R. ATM mutations in cancer: Therapeutic implications. Mol Cancer Ther. 2016;15(8): 1781-1791. doi: 10.1158/1535-7163.MCT-15-0945

 

  1. Bernstein JL, WECARE Study Collaborative Group, Concannon P. ATM, radiation, and the risk of second primary breast cancer. Int J Radiat Biol. 2017;93(10):1121-1127. doi: 10.1080/09553002.2017.1344363

 

  1. Tung NM, Boughey JC, Pierce LJ, et al. Management of hereditary breast cancer: American society of clinical oncology, American society for radiation oncology, and society of surgical oncology guideline. J Clin Oncol. 2020;38(18): 2080-2106. doi: 10.1200/JCO.20.00299

 

  1. De Bono J, Mateo J, Fizazi K, et al. Olaparib for metastatic castration-resistant prostate cancer. N Engl J Med. 2020;382(22):2091-2102. doi: 10.1056/NEJMoa1911440

 

  1. Daly MB, Pal T, Maxwell KN, et al. NCCN guidelines® insights: Genetic/familial HighRisk Assessment: Breast, ovarian, and pancreatic, version 2.2024. J Natl Compr Canc Netw. 2023;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051

 

  1. Moyer CL, Ivanovich J, Gillespie JL, et al. Rare BRIP1 missense alleles confer risk for ovarian and breast cancer. Cancer Res. 2020;80(4):857-867. doi: 10.1158/0008-5472.CAN-19-1991

 

  1. Angeli D, Salvi S, Tedaldi G. Genetic predisposition to breast and ovarian cancers: How many and which genes to test? Int J Mol Sci. 2020;21(3):1128. doi: 10.3390/ijms21031128

 

  1. Chen X, Li Y, Ouyang T, et al. Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers. Ann Oncol. 2018;29(10):2046-2051. doi: 10.1093/annonc/mdy338

 

  1. Passi G, Lieberman S, Zahdeh F, et al. Discovering predisposing genes for hereditary breast cancer using deep learning. Brief Bioinform. 2024;25(4):bbae346. doi: 10.1093/bib/bbae346

 

  1. Jia G, Chen Z, Ping J, et al. Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions. Nat Genet. 2025;57(1):80-87. doi: 10.1038/s41588-024-02031-y

 

  1. Schneble EJ, Graham LJ, Shupe MP, et al. Current approaches and challenges in early detection of breast cancer recurrence. J Cancer. 2014;5(4):281-290. doi: 10.7150/jca.8016

 

  1. Costa M, Saldanha P. Risk reduction strategies in breast cancer prevention. Eur J Breast Health. 2017;13(3):103-112. doi: 10.5152/ejbh.2017.3583

 

  1. Rafferty EA, Durand MA, Conant EF, et al. Breast cancer screening using tomosynthesis and digital mammography in dense and nondense breasts. JAMA. 2016;315(16):1784-1786. doi: 10.1001/jama.2016.1708

 

  1. Saadatmand S, Geuzinge HA, Rutgers EJT, et al. MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): A multicentre, randomised, controlled trial. Lancet Oncol. 2019;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X

 

  1. Brem RF, Tabár L, Duffy SW, et al. Assessing improvement in detection of breast cancer with three-dimensional automated breast US in women with dense breast tissue: The somoinsight study. Radiology. 2015;274(3):663-673. doi: 10.1148/radiol.14132832

 

  1. Gradishar WJ, Anderson BO, Abraham J, et al. Breast cancer, version 3.2020, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2020;18(4):452-478. doi: 10.6004/jnccn.2020.0016

 

  1. Schünemann HJ, Lerda D, Quinn C, et al. Breast cancer screening and diagnosis: A synopsis of the European breast guidelines. Ann Intern Med. 2020;172(1):46-56. doi: 10.7326/M19-2125

 

  1. Bevers TB, Niell BL, Baker JL, et al. NCCN guidelines® insights: Breast cancer screening and diagnosis, version 1.2023. J Natl Compr Canc Netw. 2023;21(9):900-909. doi: 10.6004/jnccn.2023.0046

 

  1. Monticciolo DL, Newell MS, Moy L, Niell B, Monsees B, Sickles EA. Breast cancer screening in women at higher-than-average risk: Recommendations From the ACR. J Am Coll Radiol. 2018;15(3 Pt A):408-414. doi: 10.1016/j.jacr.2017.11.034
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Journal of Biological Methods, Electronic ISSN: 2326-9901 Print ISSN: TBA, Published by POL Scientific
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