Your browser doesn't support javascript.
loading
Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review / Journal of the Korean Cancer Association, 대한암학회지
Cancer Research and Treatment ; : 941-950, 2019.
Article Dans Anglais | WPRIM | ID: wpr-763185
ABSTRACT

PURPOSE:

We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND

METHODS:

Two hundred seventy-nine KoOC patients were enrolled from three university hospitals between 2012 and 2017. Their peripheral blood samples were obtained for BRCA1/2 mutation analysis by direct sequencing. Clinicopathological characteristics were retrospectively reviewed, and spectrum analyses of BRCA1/2 mutation were assessed by systematic literature review.

RESULTS:

Frequency of BRCA1/2 mutations was 16.5% in KoOC patients. BRCA1/2 mutations were significantly associated with family history of breast/ovarian cancer (pT of BRCA2 in KoBC).

CONCLUSION:

The clinical relevance of BRCA1/2 mutations in KoOC patients was confirmed but that of early age-of-onset was not. Possible inconsistency in the ratio of BRCA1-to-BRCA2 mutations and the most common mutation between KoOC and KoBC may probably suggest presence of mutation sequence-associated penetrance tendency in hereditary Korean breast and ovarian cancer. These data may provide insights for optimal genetic counseling and prophylactic treatment for at-risk relatives of KoOC patients.
Sujets)

Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Tumeurs de l'ovaire / Région mammaire / Tumeurs du sein / Études rétrospectives / Mutation germinale / Gène BRCA1 / Pénétrance / Gène BRCA2 / Asiatiques / Conseil génétique Type d'étude: Étude observationnelle Limites du sujet: Humains langue: Anglais Texte intégral: Cancer Research and Treatment Année: 2019 Type: Article

Documents relatifs à ce sujet

MEDLINE

...
LILACS

LIS

Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Tumeurs de l'ovaire / Région mammaire / Tumeurs du sein / Études rétrospectives / Mutation germinale / Gène BRCA1 / Pénétrance / Gène BRCA2 / Asiatiques / Conseil génétique Type d'étude: Étude observationnelle Limites du sujet: Humains langue: Anglais Texte intégral: Cancer Research and Treatment Année: 2019 Type: Article