Breast cancer genetics and risk assessment: an overview for the clinician

References

• Huang J, Chan PS, Lok V, et al. Global incidence and mortality of breast cancer: a trend analysis. Aging. 2021;13(4):5748–5803.
   PubMedGoogle Scholar
• Siegel RL, Miller KD, Fuchs HE, et al. Cancer statistics, 2021. CA A Cancer J Clin. 2021;71(1):7–33.
   PubMed Web of Science ®Google Scholar
• Boyd NF, Byng JW, Jong RA, et al. Quantitative classification of mammographic densities and breast cancer risk: results from the Canadian national breast screening study. J Natl Cancer Inst. 1995;87(9):670–675.
   PubMedGoogle Scholar
• Cancer Facts and Statistics; [cited 2022 Oct 18]. Available from: https://www.cancer.org/content/dam/cancer-org/research/cancer-facts-and-statistics/annual-cancer-facts-and-figures/2020/leading-sites-of-new-cancer-cases-and-deaths-2020.pdf.
   Google Scholar
• 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(6):394–424.
   PubMed Web of Science ®Google Scholar
• Maajani K, Jalali A, Alipour S, et al. The global and regional survival rate of women with breast cancer: a systematic review and meta-analysis. Clin Breast Cancer. 2019;19(3):165–177.
   PubMed Web of Science ®Google Scholar
• Monticciolo DL, Malak SF, Friedewald SM, et al. Breast cancer screening recommendations inclusive of all women at average risk: update from the ACR and society of breast imaging. J Am Coll Radiol. 2021;18(9):1280–1288.
   PubMed Web of Science ®Google Scholar
• Tabár L, Vitak B, Chen TH, et al. Swedish two-county trial: impact of mammographic screening on breast cancer mortality during 3 decades. Radiology. 2011;260(3):658–663.
   PubMed Web of Science ®Google Scholar
• Coldman A, Phillips N, Wilson C, et al. Pan-Canadian study of mammography screening and mortality from breast cancer. J Natl Cancer Inst. 2014;106(11):dju261.
   PubMedGoogle Scholar
• Duffy SW, Tabár L, Chen HH, et al. The impact of organized mammography service screening on breast carcinoma mortality in seven Swedish counties. Cancer. 2002;95(3):458–469.
   PubMed Web of Science ®Google Scholar
• Rebbeck TR, Friebel TM, Friedman E, et al. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018;39(5):593–620.
   PubMed Web of Science ®Google Scholar
• Evans DG, van Veen EM, Byers HJ, et al. High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer. J Med Genet. 2022;59(2):115–121.
   PubMed Web of Science ®Google Scholar
• Wood ME, McKinnon W, Garber J. Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer. Breast J. 2020;26(8):1528–1534.
   PubMed Web of Science ®Google Scholar
• Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121(1):25–33.
   PubMed Web of Science ®Google Scholar
• Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001–2009.
   PubMed Web of Science ®Google Scholar
• Evans DG, Howell SJ, Howell A. Personalized prevention in high-risk individuals: managing hormones and beyond. Breast. 2018;39:139–147.
   PubMed Web of Science ®Google Scholar
• Maas P, Barrdahl M, Joshi AD, et al. Breast cancer risk from modifiable and nonmodifiable risk factors among white women in the United States. JAMA Oncol. 2016;2(10):1295–1302.
   PubMed Web of Science ®Google Scholar
• World Cancer Research Fund; [cited 2022 Oct 18]. Available from: https://www.wcrf.org/cancer-trends/breast-cancer-statistics/.
   Google Scholar
• World Cancer Research Fund. Diet, nutrition, physical activity and breast cancer: a global perspective. World Cancer Research Fund/American Institute for Cancer Research; 2017. (Revised 2018); [cited 2020 Nov 3]. Available from: dietandcancerreport.org.
   Google Scholar
• Daly AA, Rolph R, Cutress RI, et al. A review of modifiable risk factors in young women for the prevention of breast cancer. Breast Cancer. 2021;13:241–257.
   PubMed Web of Science ®Google Scholar
• Mehta LS, Watson KE, Barac A, et al. American heart association cardiovascular disease in women and special populations committee of the council on clinical cardiology; council on cardiovascular and stroke nursing; and council on quality of care and outcomes research. Cardiovascular disease and breast cancer: where these entities intersect: a scientific statement from the American heart association. Circulation. 2018;137(8):e30–e66.
   PubMed Web of Science ®Google Scholar
• Chlebowski RT, Aragaki AK, Anderson GL, et al. Women’s health initiative. Dietary modification and breast cancer mortality: long-term follow-up of the women’s health initiative randomized trial. J Clin Oncol. 2020;38(13):1419–1428.
   PubMed Web of Science ®Google Scholar
• Yaghjyan L, Pettersson A, Colditz GA, et al. Postmenopausal mammographic breast density and subsequent breast cancer risk according to selected tissue markers. Br J Cancer. 2015;113(7):1104–1113.
   PubMed Web of Science ®Google Scholar
• Mandelson MT, Oestreicher N, Porter PL, et al. Breast density as a predictor of mammographic detection: comparison of interval- and screen-detected cancers. J Natl Cancer Inst. 2000;92(13):1081–1087.
   PubMedGoogle Scholar
• Boyd NF, Guo H, Martin LJ, et al. Mammographic density and the risk and detection of breast cancer. N Engl J Med. 2007;356(3):227–236.
   PubMed Web of Science ®Google Scholar
• NCI-funded Breast Cancer Surveillance Consortium (HHSN26121100031C). http://breastscreening.cancer.gov/.
   Google Scholar
• Moshina N, Sebuødegård S, Lee CI, et al. Automated volumetric analysis of mammographic density in a screening setting: worse outcomes for women with dense breasts. Radiology. 2018;288(2):343–352.
   PubMed Web of Science ®Google Scholar
• Kerlikowske K, Cook AJ, Buist DS, et al. Breast cancer risk by breast density, menopause, and postmenopausal hormone therapy use. J Clin Oncol. 2010;28(24):3830–3837.
   PubMed Web of Science ®Google Scholar
• Ziv E, Tice J, Smith-Bindman R, et al. Mammographic density and estrogen receptor status of breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13(12):2090–2095.
   PubMed Web of Science ®Google Scholar
• Centers for Disease Control and Prevention. Breast cancer rates by race and ethnicity. 2014; [cited 2026 Jan 19]. Available from: www.cdc.gov/cancer/breast/statistics/race.htm.
   Google Scholar
• Arthur RS, Wang T, Xue X, et al. Genetic factors, adherence to healthy lifestyle behavior, and risk of invasive breast cancer among women in the UK Biobank. J Natl Cancer Inst. 2020;112(9):893–901.
   PubMedGoogle Scholar
• SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. Breast Cancer Recent Trends in SEER Age-Adjusted Incidence Rates, 2000–2017); [cited 2016 Jan 19]. Available from https://seer.cancer.gov/statistics-network/explorer/application.html?site=55&data_type=1&graph_type=2&compareBy=sex&chk_sex_3=3&rate_type=2&race=4&age_range=1&stage=101&advopt_precision=1&advopt_show_ci=on&hdn_view=0&advopt_display=2#graphArea.
   Google Scholar
• Melnikow J, Fenton JJ, Whitlock EP, et al. Supplemental screening for breast cancer in women with dense breasts: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2016;164(4):268.
   PubMed Web of Science ®Google Scholar
• Saslow D, Boetes C, Burke W, et al. American cancer society breast cancer advisory group. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007;57(2):75–89.
   PubMed Web of Science ®Google Scholar
• NCCN. Genetic/Familial high risk assesment: hereditary breast and ovarian cancer. 2019.
   Google Scholar
• DeFrancesco MS, Waldman RN, Pearlstone MM, et al. Hereditary cancer risk assessment and genetic testing in the community-practice setting. Obstet Gynecol. 2018;132(5):1121–1129.
   PubMed Web of Science ®Google Scholar
• Magnante A, Larkin L. Model calculated breast cancer risk assessment of women attending community education events. 2018 North American Menopause Society Annual Meeting Oral Abstract Presentation.
   Google Scholar
• Eisinger F, Alby N, Bremond A, et al. Recommendations for management of women having a genetic risk of developing breast and/or ovarian cancer: National Federation of Centers of the Fight against Cancer. Ann Endocrinol. 1998;59(6):470–484.
   PubMedGoogle Scholar
• Uzan C, Ndiaye-Guèye D, Nikpayam M, et al. Consultation personnalisée d’évaluation du risque de cancer du sein: premiers résultats [First results of a breast cancer risk assessment and management consultation. Bull Cancer. 2020;107(10):972–981.
   PubMedGoogle Scholar
• Beitsch PD, Whitworth PW, Hughes K, et al. Underdiagnosis of hereditary breast cancer: are genetic testing guidelines a tool or an obstacle? J Clin Oncol. 2019;37(6):453–460.
   PubMed Web of Science ®Google Scholar
• Yang S, Axilbund JE, O’Leary E, et al. Underdiagnosis of hereditary breast and ovarian cancer in medicare patients: genetic testing criteria miss the mark. Ann Surg Oncol. 2018;25(10):2925–2931.
   PubMed Web of Science ®Google Scholar
• Manahan ER, Kuerer HM, Sebastian M, et al. Consensus guidelines on genetic’ testing for hereditary breast cancer from the American society of breast surgeons. Ann Surg Oncol. 2019;26(10):3025–3031.
   PubMed Web of Science ®Google Scholar
• Evans O, Gaba F, Manchanda R. Population-based genetic testing for women’s cancer prevention. Best Pract Res Clin Obstet Gynaecol. 2020;65:139–153.
   PubMed Web of Science ®Google Scholar
• Guzauskas GF, Garbett S, Zhou Z, et al. Cost-effectiveness of population-wide genomic screening for hereditary breast and ovarian cancer in the United States. JAMA Netw Open. 2020;3(10):e2022874.
   PubMed Web of Science ®Google Scholar
• Breast Cancer Risk Assessment Tool. National Cancer Institute and National Surgical Adjuvant Breast and Bowel Project; [cited 2018 Sep 18]. Available from: www.cancer.gov/bcrisktool/.
   Google Scholar
• Breast Cancer Surveillance Consortium Risk Calculator. Breast Cancer Surveillance Consortium; [cited 2022 Aug 31]. Available from: tools.bcsc-scc.org/BC5yearRisk/intro.htm.
   Google Scholar
• Berry DA, Iversen ES, Jr, Gudbjartsson DF, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20(11):2701–2712.
   PubMed Web of Science ®Google Scholar
• Amir E, Freedman OC, Seruga B, et al. Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst. 2010;102(10):680–691.
   PubMed Web of Science ®Google Scholar
• IBIS Breast Cancer Risk Evaluation Tool; [cited 2022 Oct 18]. https://ems-trials.org/riskevaluator.
   Google Scholar
• Vachon CM, Pankratz VS, Scott CG, et al. The contributions of breast density and common genetic variation to breast cancer risk. J Natl Cancer Inst. 2015;107(5):pii:dju397.
   Google Scholar
• Kerlikowske K, Bissell MCS, Sprague BL, et al. Advanced breast cancer definitions by staging system examined in the breast cancer surveillance consortium. J Natl Cancer Inst. 2021;113(7):909–916.
   PubMedGoogle Scholar
• Monticciolo DL, Newell MS, Moy L, et al. Breast cancer screening in women at higher-than-average risk: recommendations from the ACR. J Am Coll Radiol. 2018;15(3):408–414.
   PubMed Web of Science ®Google Scholar
• American Society of Breast Surgeons. 2019. Position Statement on Screening Mammography. https://www.breastsurgeons.org/docs/statements/Position-Statement-on-Screening-Mammography.pdf.
   Google Scholar
• Ren W, Chen M, Qiao Y, et al. Global guidelines for breast cancer screening: a systematic review. Breast. 2022;64:85–99.
   PubMed Web of Science ®Google Scholar
• Glynn RJ, Colditz GA, Tamimi RM, et al. Comparison of questionnaire-based breast cancer prediction models in the nurses’ health study. Cancer Epidemiol Biomarkers Prev. 2019;28(7):1187–1194.
   PubMed Web of Science ®Google Scholar
• Harkness EF, Astley SM, Evans DG. Risk-based breast cancer screening strategies in women. Best Pract Res Clin Obstet Gynaecol. 2020;65:3–17.
   PubMed Web of Science ®Google Scholar
• Yala A, Mikhael PG, Strand F, et al. Multi-institutional validation of a mammography-based breast cancer risk model. J Clin Oncol. 2022;40(16):1732–1740.
   PubMed Web of Science ®Google Scholar
• Dembrower K, Liu Y, Azizpour H, et al. Comparison of a deep learning risk score and standard mammographic density score for breast cancer risk prediction. Radiology. 2020;294(2):265–272.
   PubMed Web of Science ®Google Scholar
• Tehranifar P, Wei Y, Terry MB. Less is more – ways to move forward for improved breast cancer risk stratification. Cancer Epidemiol Biomarkers Prev. 2021;30(4):587–589.
   PubMed Web of Science ®Google Scholar
• Kerlikowsk K, Chen S, Golmakan MK, et al. Cumulative advanced breast cancer risk prediction model developed in a screening mammography population. J Natl Cancer Inst. 2022;114(5):676–685.
   PubMedGoogle Scholar