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Breast cancer susceptibility gene (B...

Wang, Yaping.

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Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer./
作者:	Wang, Yaping.
面頁冊數:	163 p.
附註:	Source: Dissertation Abstracts International, Volume: 59-11, Section: B, page: 5780.
Contained By:	Dissertation Abstracts International59-11B.
標題:	Medicine. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=9913233
ISBN:	9780599118140

Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer.
Wang, Yaping.

Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer. - 163 p.

Source: Dissertation Abstracts International, Volume: 59-11, Section: B, page: 5780.

Thesis (Ph.D.)--The Chinese University of Hong Kong (Hong Kong), 1998.

Women who carry mutations in the BRCA1 gene have an 85% lifetime risk of breast cancer by the age of 70 years. Using the technique of PCR-SSCP and DNA auto-sequence, we examined mutation status in 81% (including 11 exons) of BRCA1 coding region among 154 sporadic breast cancer, 8 familial breast cancer, and 20 normal controls. Eight mutations were detected, one in familial breast cancer, seven sporadic breast cancer, and none in the normal controls.

ISBN: 9780599118140Subjects--Topical Terms:

641104
Medicine.

Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer.
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245 1 0 $a Breast cancer susceptibility gene (BRCA1) mutations in Hong Kong Chinese women with breast cancer.
300 $a 163 p.
500 $a Source: Dissertation Abstracts International, Volume: 59-11, Section: B, page: 5780.
500 $a Adviser: Joseph W. Y. Lau.
502 $a Thesis (Ph.D.)--The Chinese University of Hong Kong (Hong Kong), 1998.
520 $a Women who carry mutations in the BRCA1 gene have an 85% lifetime risk of breast cancer by the age of 70 years. Using the technique of PCR-SSCP and DNA auto-sequence, we examined mutation status in 81% (including 11 exons) of BRCA1 coding region among 154 sporadic breast cancer, 8 familial breast cancer, and 20 normal controls. Eight mutations were detected, one in familial breast cancer, seven sporadic breast cancer, and none in the normal controls.
520 $a One missense mutation found in familial breast cancer tissue was located in exon 13, leading to alanine-threonine substitution. Seven mutations were found in sporadic breast cancer tissue in exon 11, 13, 16, and 24 of BRCA1 gene. A 207-bp deletion found in exon 16 (57508-57715) which led to a 69-aa deletion. A nonsense mutation found in exon 13 that caused a terminal codon at codon 1420 and led to truncation of protein without 443 amino acid. Five missense mutations in tumours found in 4 sporadic breast cancer with each mutation being a single nucleotide transition, which led to an amino acid substitution. Most of the mutations found in our study are very likely of germline mutations, but our study results demonstrated that mutation found in patient 96 was a somatic mutation.
520 $a BRCA1 mutations were found in at least 4% of sporadic breast cancer in our study population indicating that the incidence of BRCA1 mutations in Hong Kong Chinese was similar to other studies. The large DNA fragment deletion in exon 16 was the somatic mutation leading to predisposition to breast cancer in sporadic breast cancer. The nonsense mutation found in exon 13 found was the new finding and the mutation may provide further understanding to the association between BRCA1 gene mutation and the pathogenesis of breast cancer in general population.
520 $a BRCA1 expression is important for understanding the function of BRCA1 gene and its influence on the malignant phenotype in breast cancer. Through the immunohistochemical study of 168 breast tumours, we found that the location of BRCA1 protein was associated with patients' duration of breast symptom. Patients with positive cytoplasmic expression had a significantly longer breast symptom (T-test and One-Way ANOVA, p < 0.005).
520 $a Flow cytometric analysis showed that high proportion of breast cancer lacking BRCA1 protein in the cell nuclei had significantly high S-phase fraction (T-test and One-way ANOVA, p < 0.005). The tumours lacking nuclear BRCA1 protein also tended to be DNA aneuploid and high tumour grade. Besides consistent with previous report about nuclear location of BRCA1 protein in normal cell, our data indicated that nuclei-located of BRCA1 protein played a critical role in controlling cell growth and proliferation.
520 $a Our results supported that BRCA1 gene is a tumour suppression gene. In Hong Kong Chinese, BRCA1 gene mutations were involved at least in 4% of women with sporadic breast cancer. Gene expression study showed that the biological feature of proliferation of breast cancer was significantly associated with the location of BRCA1 protein in the cells.
590 $a School code: 1307.
650 4 $a Medicine. $3 641104
650 4 $a Oncology. $3 751006
650 4 $a Genetics. $3 530508
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710 2 $a The Chinese University of Hong Kong (Hong Kong). $3 1017547
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