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. 2019 Jan;51(1):280-288.
doi: 10.4143/crt.2018.079. Epub 2018 May 4.

Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers

Eun-Gyeong Lee  1 , Hyok Jo Kang  1 , Myong Cheol Lim  2   3   4 , Boyoung Park  2 , Soo Jin Park  1 , So-Youn Jung  1 , Seeyoun Lee  1 , Han-Sung Kang  1 , Sang-Yoon Park  3   5 , Boram Park  6 , Jungnam Joo  6 , Jai Hong Han  1 , Sun-Young Kong  2   7 , Eun Sook Lee  1   2
Affiliations

Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers

Eun-Gyeong Lee et al. Cancer Res Treat. 2019 Jan.

Abstract

Purpose: The purpose of this study was to investigate decision patterns to reduce the risks of BRCArelated breast and gynecologic cancers in carriers of BRCA pathogenic variants. We found a change in risk-reducing (RR) management patterns after December 2012, when the National Health Insurance System (NHIS) of Korea began to pay for BRCA testing and riskreducing salpingo-oophorectomy (RRSO) in pathogenic-variant carriers.

Materials and methods: The study group consisted of 992 patients, including 705 with breast cancer (BC), 23 with ovarian cancer (OC), 10 with both, and 254 relatives of high-risk patients who underwent BRCA testing at the National Cancer Center of Korea from January 2008 to December 2016.We analyzed patterns of and factors in RR management.

Results: Of the 992 patients, 220 (22.2%) were carriers of BRCA pathogenic variants. About 92.3% (203/220) had a family history of BC and/or OC,which significantly differed between BRCA1 and BRCA2 carriers (p < 0.001). All 41 male carriers chose surveillance. Of the 179 female carriers, 59 of the 83 carriers (71.1%) with BC and the 39 of 79 unaffected carriers (49.4%) underwent RR management. None of the carriers affected with OC underwent RR management. Of the management types, RRSO had the highest rate (42.5%) of patient choice. The rate of RR surgery was significantly higher after 2013 than before 2013 (46.3% [74/160] vs. 31.6% [6/19], p < 0.001).

Conclusion: RRSO was the preferred management for carriers of BRCA pathogenic variants. The most important factors in treatment choice were NHIS reimbursement and/or the severity of illness.

Keywords: BRCA1; BRCA2; Familial breast cancer; Ovarian neoplasms; Prophylactic surgical procedure.

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Conflict of interest statement

Conflict of interest relevant to this article was not reported.

Figures

Fig. 1.
Fig. 1.
Flow diagram of study subjects. Genetic testing included direct sequencing and multiple ligation-dependent probe amplification analysis. A total of 220 carriers of pathogenic variants, including 125 with BRCA1 gene variants and 95 with BRCA2 gene variants, were identified.
Fig. 2.
Fig. 2.
Types of risk-reducing management applied to female BRCA1/2 pathogenic variant carriers over time. (A) Types of risk-reducing management chosen by affected female BRCA1/2 pathogenic-variant carriers with breast cancer and by unaffected carriers. (B) Numbers of women who underwent risk-reducing surgery before and after 2013, the year National Health Insurance System began reimbursing for BRCA testing and risk-reducing salpingo-oophorectomy in pathogenic-variant carriers. RRSO, riskreducing salpingo-oophorectomy; RRM, risk-reducing mastectomy.
See this image and copyright information in PMC

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