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Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation by Go Woon Jeong; Wonkyo Shin; Dong Ock Lee; Sang-Soo Seo; Sokbom Kang; Sang-Yoon Park; Myong Cheol Lim is a Medicine article available to read on EtoBox.

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

## 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.

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Author

Go Woon Jeong; Wonkyo Shin; Dong Ock Lee; Sang-Soo Seo; Sokbom Kang; Sang-Yoon Park; Myong Cheol Lim

Publisher

Korean Cancer Association

Published

2020

Language

EN

Field

Medicine (Health Sciences)