Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
BJOG
; 125(11): 1451-1458, 2018 Oct.
Article
em En
| MEDLINE
| ID: mdl-29460478
ABSTRACT
OBJECTIVE:
To determine the rates of germline BRCA1 and BRCA2 mutations in Scottish patients with ovarian cancer, before and after a change in testing policy.DESIGN:
Retrospective cohort study.SETTING:
Four cancer/genetics centres in Scotland. POPULATION Patients with ovarian cancer undergoing germline BRCA1 and BRCA2 (gBRCA1/2) sequencing before 2013 (under the 'old criteria', with selection based solely on family history), after 2013 (under the 'new criteria', with sequencing offered to newly presenting patients with non-mucinous ovarian cancer), and in the 'prevalent population' (who presented before 2013, but were not eligible for sequencing under the old criteria but were sequenced under the new criteria).METHODS:
Clinicopathological and sequence data were collected before and for 18 months after this change in selection criteria. MAIN OUTCOMEMEASURES:
Frequency of germline BRCA1, BRCA2, RAD51C, and RAD51D mutations.RESULTS:
Of 599 patients sequenced, 205, 236, and 158 were in the 'old criteria', 'new criteria', and 'prevalent' populations, respectively. The frequency of gBRCA1/2 mutations was 30.7, 13.1, and 12.7%, respectively. The annual rate of gBRCA1/2 mutation detection was 4.2 before and 20.7 after the policy change. A total of 48% (15/31) 'new criteria' patients with gBRCA1/2 mutations had a Manchester score of <15 and would not have been offered sequencing based on family history criteria. In addition, 20 patients with gBRCA1/2 were identified in the prevalent population. The prevalence of gBRCA1/2 mutations in patients aged >70 years was 8.2%.CONCLUSIONS:
Sequencing all patients with non-mucinous ovarian cancer gives a much higher annual gBRCA1/2 mutation detection rate, with the frequency of positive tests still exceeding the 10% threshold upon which many family history-based models operate. TWEETABLE ABSTRACT BRCA sequencing all non-mucinous cancer patients increases mutation detection five fold.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Carcinoma
/
Testes Genéticos
/
Proteína BRCA1
/
Proteína BRCA2
Tipo de estudo:
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
BJOG
Assunto da revista:
GINECOLOGIA
/
OBSTETRICIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Reino Unido