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
in Zh
| WPRIM
| ID: wpr-287994
Responsible library:
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>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Breast Neoplasms
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DNA Mutational Analysis
/
Base Sequence
/
China
/
Exons
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Family Health
/
Risk Factors
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Tumor Suppressor Protein p53
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Li-Fraumeni Syndrome
Type of study:
Etiology_studies
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Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
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Female
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Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article