Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients / 전남의대학술지
Chonnam Medical Journal
;
: 99-103, 2019.
Article
Dans Anglais
| WPRIM
| ID: wpr-763277
ABSTRACT
Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The BRCA1/2 mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Région mammaire
/
Tumeurs du sein
/
Exons
/
Mutation germinale
/
Protéine BRCA1
/
Polymorphisme de nucléotide simple
/
Protéine BRCA2
/
Gène BRCA2
/
Taux de mutation
/
Corée
Limites du sujet:
Femelle
/
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Chonnam Medical Journal
Année:
2019
Type:
Article
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