The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer

被引:4
作者
Bolze, Alexandre [1 ,4 ]
Cirulli, Elizabeth T. [1 ]
Hajek, Catherine [1 ]
Blitstein, Jamie M. Schnell [2 ]
Grzymski, Joseph J. [2 ,3 ]
机构
[1] Helix, San Mateo, CA USA
[2] Renown Hlth, Reno, NV USA
[3] Univ Nevada, Reno, NV USA
[4] 101 S Ellsworth Ave,350, San Mateo, CA 94401 USA
关键词
D O I
10.1001/jamaoncol.2023.5468
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
ImportanceGenetic information is not being used to identify women at lower risk of breast cancer or other diseases in clinical practice. With the new US Preventive Services Task Force guidelines lowering the age for mammogram screening for all, there is a potential benefit in identifying women at lower risk of disease who may defer the start of mammographic screening. This genetic risk-based approach would help mitigate overscreening, associated costs, and anxiety.ObjectiveTo assess breast cancer incidence and age of onset among women at low genetic risk compared with women at average risk and evaluate the potential to delay mammography on the basis of genetic risk stratification.Design, Setting, and ParticipantsThis retrospective case-control study included 25 591 women from the Healthy Nevada Project sequenced by Helix between 2018 and 2022. Data extracted from electronic health records at the end of 2022 (mean length of electronic health record available was 12 years) were used for the analysis in 2023.Main Outcomes and MeasuresBreast cancer diagnosis was identified from electronic health records. Classification to the low-risk genetic group required (1) the absence of pathogenic variants or a variant of uncertain significance in BRCA1, BRCA2, PALB2, ATM, or CHEK2, and (2) a low polygenic risk score (bottom 10%) using a 313-single-nucleotide variant model.ResultsOf 25 591 women in the study (mean [SD] age was 53.8 [16.9] years), 2338 women (9.1%) were classified as having low risk for breast cancer; 410 women (1.6%) were classified as high risk; and 22 843 women (89.3%) as average risk. There was a significant reduction in breast cancer diagnosis among the low-risk group (hazard ratio, 0.39; 95% CI, 0.29-0.52; P < .001). By 45 years of age, 0.69% of women in the average-risk group were diagnosed with breast cancer, whereas women in the low-risk group reached this rate at 51 years. By 50 years of age, 1.41% of those in the average-risk group were diagnosed with breast cancer, whereas those in the low-risk group reached this rate at age 58 years. These findings suggest that deferring mammogram screening by 5 to 10 years for women at low risk of breast cancer aligns with new draft recommendations.Conclusions and RelevanceThe findings of this retrospective case-control study underscore the value of genetics in individualizing the onset of breast cancer screening. Improving breast cancer risk stratification by implementing both high-risk and low-risk strategies in screening can refine preventive measures and optimize health care resource allocation.
引用
收藏
页码:236 / 239
页数:4
相关论文
共 50 条
[31]   The genetics of breast cancer: risk factors for disease [J].
Collins, Andrew ;
Politopoulos, Ioannis .
APPLICATION OF CLINICAL GENETICS, 2011, 4 :11-19
[32]   Identification of personal risk of breast cancer: genetics [J].
Diana M Eccles .
Breast Cancer Research, 10
[33]   Identification of personal risk of breast cancer: genetics [J].
Eccles, Diana M. .
BREAST CANCER RESEARCH, 2008, 10 (Suppl 4)
[34]   Prospective study of electrical impedance scanning for identifying young women at risk for breast cancer [J].
Alexander Stojadinovic ;
Orah Moskovitz ;
Zahava Gallimidi ;
Scott Fields ;
Ari D. Brooks ;
Rachel Brem ;
Robert N. Mucciola ;
Mukul Singh ;
Mary Maniscalco-Theberge ;
Howard E. Rockette ;
David Gur ;
Craig D. Shriver .
Breast Cancer Research and Treatment, 2006, 97 :179-189
[35]   Prospective study of electrical impedance scanning for identifying young women at risk for breast cancer [J].
Stojadinovic, Alexander ;
Moskovitz, Orah ;
Gallimidi, Zahava ;
Fields, Scott ;
Brooks, Ari D. ;
Brem, Rachel ;
Mucciola, Robert N. ;
Singh, Mukul ;
Maniscalco-Theberge, Mary ;
Rockette, Howard E. ;
Gur, David ;
Shriver, Craig D. .
BREAST CANCER RESEARCH AND TREATMENT, 2006, 97 (02) :179-189
[36]   THE RISK OF BREAST CANCER AT THE WOMEN [J].
Aslan, Fatma Eti ;
Gurkan, Aysel .
JOURNAL OF BREAST HEALTH, 2007, 3 (02) :63-68
[37]   Automated Breast Cancer Risk Assessment: Identifying High Risk Women in the Primary Care Setting. [J].
Ozanne, E. ;
Omer, Z. ;
Carlson, K. .
CANCER RESEARCH, 2011, 71
[38]   Identifying women with increased risk of breast cancer and implementing risk-reducing strategies and supplemental imaging [J].
Suneela Vegunta ;
Asha A. Bhatt ;
Sadia A. Choudhery ;
Sandhya Pruthi ;
Aparna S. Kaur .
Breast Cancer, 2022, 29 :19-29
[39]   Identifying women with increased risk of breast cancer and implementing risk-reducing strategies and supplemental imaging [J].
Vegunta, Suneela ;
Bhatt, Asha A. ;
Choudhery, Sadia A. ;
Pruthi, Sandhya ;
Kaur, Aparna S. .
BREAST CANCER, 2022, 29 (01) :19-29
[40]   Statins lower risk of breast cancer [J].
不详 .
EUROPEAN JOURNAL OF CANCER, 2005, 41 (11) :1498-1498