Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Purpose The BRCA1 or BRCA2 gene is transmitted in an autosomal dominant fashion, and genetic testing of first-degree relatives of patients with family-specific mutation (FSM) is recommended. This study examined factors affecting the uptake of FSM testing among relatives of patients with peritoneal, ovarian, or fallopian tube (POFT) cancer with confirmed BRCA1 or BRCA2 germline mutation. Materials and Methods Data from medical charts of 392 eligible patients and their relatives who had undergone outpatient genetic counseling/testing were retrospectively reviewed. Clinical factors were compared between family members who had and had not undergone genetic counseling/testing. Results The uptake of FSM testing was 30.5% (129/423) among first-degree living relatives and 53.5% (69/129) within the overall family unit. The average time from genetic testing of the proband to the first FSM test within a family was 168 days (range, 23 to 681 days). Having a living father (33.8% vs. 13.3%, p=0.007) and daughter (79.4% vs. 60.3%, p=0.019) increased the uptake of FSM testing. FSM testing was more likely among female than among male relatives of cancer patients (40.9% vs. 17.6%, p < 0.001). Conclusion Approximately one-third of first-degree relatives of patients with a POFT cancer with BRCA1 or BRCA2 mutation underwent FSM testing. Having a living father or daughter was a factor affecting the uptake of FSM testing, which was higher among female than among male relatives of the proband. This discrepancy might be due to a misconception that the BRCA gene is associated with women rather than with men.
Abstract
Purpose The BRCA1 or BRCA2 gene is transmitted in an autosomal dominant fashion, and genetic testing of first-degree relatives of patients with family-specific mutation (FSM) is recommended. This study examined factors affecting the uptake of FSM testing among relatives of patients with peritoneal, ovarian, or fallopian tube (POFT) cancer with confirmed BRCA1 or BRCA2 germline mutation. Materials and Methods Data from medical charts of 392 eligible patients and their relatives who had undergone outpatient genetic counseling/testing were retrospectively reviewed. Clinical factors were compared between family members who had and had not undergone genetic counseling/testing. Results The uptake of FSM testing was 30.5% (129/423) among first-degree living relatives and 53.5% (69/129) within the overall family unit. The average time from genetic testing of the proband to the first FSM test within a family was 168 days (range, 23 to 681 days). Having a living father (33.8% vs. 13.3%, p=0.007) and daughter (79.4% vs. 60.3%, p=0.019) increased the uptake of FSM testing. FSM testing was more likely among female than among male relatives of cancer patients (40.9% vs. 17.6%, p < 0.001). Conclusion Approximately one-third of first-degree relatives of patients with a POFT cancer with BRCA1 or BRCA2 mutation underwent FSM testing. Having a living father or daughter was a factor affecting the uptake of FSM testing, which was higher among female than among male relatives of the proband. This discrepancy might be due to a misconception that the BRCA gene is associated with women rather than with men.
참고문헌 (17)
- Song H, "Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population", J Clin Oncol, 33, pp.2901~2907 (2015)
- Lim MC, "BRCA1and BRCA2 germline mutations in Korean ovarian cancer patients", J Cancer Res Clin Oncol, 135, pp.1593~1599 (2009)
- Choi MC, "Germline mutations of BRCA1 and BRCA2 in Korean ovarian cancer patients : finding founder mutations", Int J Gynecol Cancer, 25, pp.1386~1391 (2015)
- Yoshida K, "Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage", Cancer Sci, 95, pp.866~871 (2004)
- Daly MB, "NCCN guidelines insights: genetic", familial high-risk assessment: breast and ovarian, version 2.2017, 2017, pp.15, 9~20
- 최민철, "Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)", Journal of Gynecologic Oncology, 27(4), pp.1~4 (2016), 대한부인종양학회
- Childers CP, "National estimates of genetic testing in women with a history of breast or ovarian cancer", J Clin Oncol, 35, pp.3800~3806 (2017)
- Hinchcliff EM, "Disparities in gynecologic cancer genetics evaluation", Gynecol Oncol, 153, pp.184~191 (2019)
- Hoskins PJ, "Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing : a review of the literature", CA Cancer J Clin, 67, pp.493~506 (2017)
- McGivern B, "Family communication about positive BRCA1 and BRCA2 genetic test results", Genet Med, 6, pp.503~509 (2004)
- Fehniger J, "Family communication of BRCA1", 2 results and family uptake of BRCA1, 2 carriers, pp.J Genet Couns, 2013[DOI]
- Cui J, "After BRCA1 and BRCA2-what next? Multifactorial segregation analyses of three-generation, population-based Australian families affected by female breast cancer", Am J Hum Genet, 68, pp.420~431 (2001)
- Marabelli M, "Cancer : more genetic BRCA testing for men", Nature, 573, pp.346~ (2019)
- Ibrahim M, "Male BRCA mutation carriers : clinical characteristics and cancer spectrum", BMC Cancer, 18, pp.179~ (2018)
- Pal T, "Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers", Fam Cancer, 12, pp.615~619 (2013)
- Ni J, "Olaparib in the therapy of advanced ovarian cancer : first real world experiences in safety and efficacy from China", J Ovarian Res, 12, pp.117~ (2019)
- Manchanda R, "Population based testing for primary prevention : a systematic review", Cancers(Basel), 10, pp.424~ (2018)