Journal List > Ann Lab Med > v.40(2) > 1135909

Ki: From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer
More than one-third of all Koreans are estimated to have cancer from birth to life expectancy, and the cumulative risk of cancer development during their lifetime is 38.3% for men and 33.3% for women. In 2019, 221,347 Korean individuals are expected to be newly diagnosed as having cancer and approximately 82,344 are expected to die due to cancer. Breast and lung cancers are the most common types in women (23.8%) and men (16.4%), respectively [1].
The incidence of breast cancer in Korean women is the highest among women in their fifth decade, while in American women, the incidence is highest among those in their mid-sixth decade or later [2]. One explanation for this difference may be genetic factors. Indeed, several breast cancer-related genes, including ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, STK11, and TP53, have been identified [3]. Among these, BRCA1/2 are the most important and most widely studied genetic risk factors for breast cancer worldwide.
In this issue of Ann Lab Med, Yoo, et al. [4] report the results of genetic testing of BRCA1/2 and the clinical validity of next-generation sequencing-based multi-gene panel testing in a single institution. Although pathogenic variants (PV) were identified not only in BRCA1/2 but also in MSH2, PMS2, CHEK2, and PALB2, the proportion of PV in BRCA1/2 was estimated to be over 88%, indicating the need to focus genetic testing and management efforts more on these two genes.
Recently, the US Preventive Services Task Force updated its recommendations on risk assessment, genetic counseling, and genetic testing for BRCA-related cancers in women as follows: “primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (B recommendation)” [5].
This issue of Ann Lab Med also presents a review article by Lee, et al. [6], which outlines treatment and prevention strategies for patients with BRCA-related breast cancer. It also covers recent advances in the management of BRCA-related breast cancer by treatment with poly (ADP-ribose) polymerase (PARP) inhibitors.


Conflicts of Interest None declared.


1. Jung KW, Won YJ, Kong HJ, Lee ES. Prediction of cancer incidence and mortality in Korea, 2019. Cancer Res Treat. 2019; 51:431–437.
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2. Kang SY, Kim YS, Kim Z, Kim HY, Lee SK, Jung KW, et al. Basic findings regarding breast cancer in Korea in 2015: data from a breast cancer registry. J Breast Cancer. 2018; 21:1–10.
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3. Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015; 372:2243–2257.
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4. Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, et al. Clinical validity of next-generation sequencing multi-gene panel testing for detecting pathogenic variants in patients with hereditary breast-ovarian cancer syndrome. Ann Lab Med. 2020; 40:148–154.
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5. US Preventive Services Task Force. Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019; 322:652–665.
6. Lee A, Moon BI, Kim TH. BRCA1/BRCA2 pathogenic variant breast cancer: treatment and prevention strategies. Ann Lab Med. 2020; 40:114–121.

Chang-Seok Ki

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