Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan / Journal of the Korean Cancer Association, 대한암학회지
Cancer Research and Treatment
;
: 992-1000, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-763180
ABSTRACT
PURPOSE:
Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of PALB2 mutations in early-onset and familial breast/ovarian cancer patients from Pakistan. MATERIALS ANDMETHODS:
PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. Mutations were confirmed by DNA sequencing. Novel PALB2 alterations were analyzed for their potential effect on protein function or splicing using various in silico prediction tools. Three-hundred and seventy-two healthy controls were screened for the presence of the identified (potentially) functional mutations.RESULTS:
A novel nonsense mutation, p.Y743*, was identified in one familial breast cancer patient (1/127, 0.8%). Besides, four in silico-predicted potentially functional mutations including three missense mutations and one 5' untranslated region mutation were identified p.D498Y, novel p.G644R, novel p.E744K, and novel c.-134_-133delTCinsGGGT. The mutations p.Y743* and p.D498Y were identified in two familial patients diagnosed with unilateral or synchronous bilateral breast cancer at the ages of 29 and 39, respectively. The other mutations were identified in an early-onset (≤ 30 years of age) breast cancer patient each. All five mutations were absent in 372 healthy controls suggesting that they are disease associated.CONCLUSION:
Our findings show that PALB2 mutations account for a small proportion of early-onset and hereditary breast/ovarian cancer cases in Pakistan.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Paquistão
/
Simulação por Computador
/
Neoplasias da Mama
/
Programas de Rastreamento
/
Prevalência
/
Cromatografia Líquida
/
Análise de Sequência de DNA
/
Mutação em Linhagem Germinativa
/
Códon sem Sentido
/
Regiões 5' não Traduzidas
Tipo de estudo:
Estudo de prevalência
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Cancer Research and Treatment
Ano de publicação:
2019
Tipo de documento:
Artigo
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