Germline mutations of TP53 gene among Chinese families with high risk for breast cancer / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 761-765, 2015.
Article
en Zh
| WPRIM
| ID: wpr-287994
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the role of germline mutations of TP53 gene among a Chinese population with high risk for breast cancer.</p><p><b>METHODS</b>A total of 81 BRCA-negative breast cancer probands from cancer families were analyzed using targeted capture and next-generation sequencing. Candidate mutations were verified with Sanger sequencing. Co-segregation analyses were carried out to explore the likely pathogenicity of the mutation.</p><p><b>RESULTS</b>Of the 81 BRCA-negative patients, 3 exonic mutations in the TP53 gene were identified in 3 breast cancer patients. Of these, 2 mutations were previously reported and 1 was novel. One family with TP53 mutation has met the criteria for Li-Fraumeni syndrome (LFS) and accounted for 9.1% of all families who fulfilled the diagnostic criteria for LFS. Two of the carriers were diagnosed with breast cancer under the age of 30, and have accounted for 11.8% (2/17) of all very young (≤30 years) breast cancer patients in our study.</p><p><b>CONCLUSION</b>The TP53 germline mutation is more common in Chinese population with a high risk for breast cancer than previously thought. TP53 gene mutation screening should be considered particularly for patients with a family history of LFS and very young age of onset.</p>
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Índice:
WPRIM
Asunto principal:
Linaje
/
Neoplasias de la Mama
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Análisis Mutacional de ADN
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Secuencia de Bases
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China
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Exones
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Salud de la Familia
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Factores de Riesgo
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Proteína p53 Supresora de Tumor
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Síndrome de Li-Fraumeni
Tipo de estudio:
Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Article