Analysis of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 195-198, 2008.
Article
in Chinese
| WPRIM
| ID: wpr-229792
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the prevalence of BRCA2 gene mutations among familial and/or early-onset breast cancer patients in eastern Shandong of China.</p><p><b>METHODS</b>Fifty-two familial and/or early-onset breast cancer patients from unrelated family were analyzed. Genomic DNA was collected from the peripheral blood mononuclear cells, the coding sequences and exon-intron boundaries of BRCA2 gene were screened using denaturing high performance liquid chromatography (DHPLC), and the abnormal fragments were confirmed with direct DNA sequencing.</p><p><b>RESULTS</b>Three mutations (5.8%) in BRCA2 gene were identified. They were 2001del TTAT, 4099C to T and 5873C to A. To our knowledge, all of them were firstly found in Chinese population. Furthermore, all the three mutations (12%) were identified in familial breast cancer patients, and none was in the early-onset patients.</p><p><b>CONCLUSION</b>BRCA2 may play an important role in the familial breast cancer in eastern Shandong Chinese population, but not in the early-onset breast cancer. It is necessary to give genetic test to familial breast cancer patients in this population.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Breast Neoplasms
/
China
/
Polymerase Chain Reaction
/
Chromatography, High Pressure Liquid
/
BRCA2 Protein
/
Genetics
/
Mutation
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2008
Type:
Article
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