Science and Technology Production
Article
Authorship
Date
2018
Publishing House and Editing Place
Nature publishing group
Magazine
Frontier in Oncology,
vol. 8
- ISSN 2234-943X
Nature publishing group
Nature publishing group
ISSN
2234-943X
Summary
Information provided by the agent in
SIGEVA
In Ashkenazi Jewish (AJ) high riskfamilies 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2(c.5946del)] account for the majority of high risk breast and ovarian cancercases in that ethnic group. Few studies with limited number of genotypedindividuals have expanded the spectrum of mutations in both BRCA genes beyondthe 3 mutation panel. In this study, 279 high risk individual AJ were counseledat CEMIC (Centro de Educación Médica e Investigaciones Clínicas),...
In Ashkenazi Jewish (AJ) high riskfamilies 3 mutations [2 in BRCA1 (c. 68_69del and c.5266dup) and 1 in BRCA2(c.5946del)] account for the majority of high risk breast and ovarian cancercases in that ethnic group. Few studies with limited number of genotypedindividuals have expanded the spectrum of mutations in both BRCA genes beyondthe 3 mutation panel. In this study, 279 high risk individual AJ were counseledat CEMIC (Centro de Educación Médica e Investigaciones Clínicas), and weregenotyped first for the 3 recurrent mutation panel followed by NextGeneration Sequencing (NGS) of BRCA1BRCA2 in 76 individuals who tested negativefor the first genotyping step. Of 279 probands (259 women), 55 (50women) harbored one of the 3 mutations (19.7%); Of 76 fully sequenced cases (73women), 6 (5 women) (7.9%) carried a pathogenic mutation: in BRCA1,c.2728C>T - p.(Gln910∗); c.5407-?_(∗1_?)deland c.5445G>A - p.(Trp1815∗); in BRCA2, c.5351dup -p.(Asn1784Lysfs∗3); c.7308del - p.(Asn2436Lysfs∗33) and c.9026_9030del - p.(Tyr3009Serfs∗7). Of 61 mutation carriers the distribution was as follows:11 cancer free at the time of genotyping, 34 female breast cancer cases with agerange 28?72 years (41.6 ± 9.3), 3 male breast cancer cases with age range 59?75years (65 ± 7.3), 6 breast and ovarian cancer cases with age range 35?60 years(breast 40.4 ± 5.2; ovary 47.8 ± 7.2) and 7 ovarian cancer cases with age range41?77 years (60.6 ± 13.3). This information proved highly useful forcounseling, treatment, and prevention for the patient and the family. Inconclusion comprehensive BRCA1/2 testing in AJ high risk breast ovarian cancercases adds valuable clinically relevant information in a subset of casesestimated up to 7% and is therefore recommended.
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Key Words
AshkenazyBRCAMutationBreat cancer