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Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation

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,...

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Autores principales: Jeong, Go Woon, Shin, Wonkyo, Lee, Dong Ock, Seo, Sang-Soo, Kang, Sokbom, Park, Sang-Yoon, Lim, Myong Cheol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812001/
https://www.ncbi.nlm.nih.gov/pubmed/32777875
http://dx.doi.org/10.4143/crt.2020.364
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author Jeong, Go Woon
Shin, Wonkyo
Lee, Dong Ock
Seo, Sang-Soo
Kang, Sokbom
Park, Sang-Yoon
Lim, Myong Cheol
author_facet Jeong, Go Woon
Shin, Wonkyo
Lee, Dong Ock
Seo, Sang-Soo
Kang, Sokbom
Park, Sang-Yoon
Lim, Myong Cheol
author_sort Jeong, Go Woon
collection PubMed
description 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.
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spelling pubmed-78120012021-01-26 Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation Jeong, Go Woon Shin, Wonkyo Lee, Dong Ock Seo, Sang-Soo Kang, Sokbom Park, Sang-Yoon Lim, Myong Cheol Cancer Res Treat Original Article 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. Korean Cancer Association 2021-01 2020-08-11 /pmc/articles/PMC7812001/ /pubmed/32777875 http://dx.doi.org/10.4143/crt.2020.364 Text en Copyright © 2021 by the Korean Cancer Association This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Jeong, Go Woon
Shin, Wonkyo
Lee, Dong Ock
Seo, Sang-Soo
Kang, Sokbom
Park, Sang-Yoon
Lim, Myong Cheol
Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title_full Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title_fullStr Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title_full_unstemmed Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title_short Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation
title_sort uptake of family-specific mutation genetic testing among relatives of patients with ovarian cancer with brca1 or brca2 mutation
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812001/
https://www.ncbi.nlm.nih.gov/pubmed/32777875
http://dx.doi.org/10.4143/crt.2020.364
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