Xác định đột biến gen BRCA1 và BRCA2 ở bệnh nhân nữ ung thư vú tại Việt Nam

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XAC DjNH DOT BIEN GEN BRCA1 VA BRCA2

or BENH NHAN NUfUNG THlTVU TAI VIET NAM

L £ TH! PHLfONG - Tru&ng Dai hgc Ky thuit Y teHai Duong

NGUYI N THU THUY - Trudng Dai Hgc Y Hi Ngi

TA VA N T O - Bgnh vien K Hi Ngi

NGUYEN TH! DIEU THUY - Vign Cdng nghg Sinh hgc

TOM TAT

Muc dieh: Xae dinh tan suat ddt bien 185delAG,

5382insC tren gen BRCA1 va 6174delT tren gen

BRCA2 d binh nhan nd ung thu vu Viet Nam.

Phuang phap: Nghien citu 150 benh nhan ung thu

biiu md tuyen vu dugc Ida chgn ngau nhien tai Benh

viin K Ha Ndi td thing 9/2007 den thing 3/2009. Cac

mau DNA dugc tach chiet vi lam xit nghiim gen

BRCA vdi 3 ddt bien 185delAG, 5382insC tren gen

BRCA1 va 6174 delTtren gen BRCA2.

Ket qua:

- Khdng benh nhan nao trong sd 150 benh nhin

ung thu vu mang ddt bien 185delAG trin gen BRCA1

vi ddt bien 6174delT tren gen BRCA2. Tf' le nay la

0,0%.

- Cd 3 trong sd 150 benh nhan ung thu vu mang

ddt bien 5382insC tren gen BRCA 1. Ty le nay la 2%.

• Phat hien 2 ddt bien mdi xay ra tren gen BRCA 1,

dd la ddt bien 93957T>A vi ddt bien 160920C>G tren

genBFitAI.

SUMMARY

Aims: Determination frequency of mutations

185delAG, 5382insC and 6174delT in Vietnamese

female patients with breast cancer

Methods: 150 unselected cases of breast

carcinoma were recruited from September 2007 to

March 2009 at K Hospital, Hanoi. DNA samples were

analysed and tested on BRCA genes for three

mutations: 185delAG, 5382insC ii, BRCA1 gene and

6174delT in BRCA2 gene.

Results:

- None of 150 cases were reported to carry

mutations 185delAG and 6174delT. This rate is 0%.

- Three of 150 cases with breast cancer carried

5382insC. This rate is 2%.

- We found two founder mutations in BRCA1

gene: 93957T>A and 160920C>G

OAT VAN OE

Gen BRCA1 nam tren vai dai ciia NST 17, viing 2,

bang 1, bang phu 2, dupe phat hien vao nam 1994 do

eac nha khoa hpe thupe Vien nghien eifu SUc khoe

Qudc gia (NIH) Hoa Ky. Gdm 24 exon va 2 intron, cd

kich thudc khoang 80 kb, tU cap nucleotide 92500 -

173688, tUdng dUdng 81188 bp. Kich thudc phien ma

eua mARN la 7,8 kb, ma hoa che phan tif protein gdm

1863 aa [51.

Gen BRCA2 nam tren vai dai eua NST 13, viing 1,

bang 3, bang phu 1, do GS Michael Stratton va TS

Richard Wooster (Vien nghien cifu ung thuAnh) phat

hien nam 1995 [2]. BRCA2 bao gdm 27 exon va 31

intron [5], vdi dp ldn khoang 80kb, tU cap nucleotide

5000 de'n cap nucleotide 89192, tUdng dUdng 84192

bp. Kieh thudc phien ma eiia mRNA khoang 10,4 kb,

ma hoa eho phan tCf protein gdm 3418 axit amin [4].

Gen BRCA1 va BRCA2 la loai gen dupe biet den

nhu la gen ife che tao u, no cd chUc nang ngan ngUa

Y HOC THUC HANH (741) - S6 11/2010 107