Tehran University Medical Journal
مجله دانشکده پزشکی، دانشگاه علوم پزشکی تهران
Tehran Univ Med J
Medical Sciences
http://tumj.tums.ac.ir
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1683-1764
1735-7322
10.18869/acadpub.tumj
000
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fa
jalali
1390
9
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gregorian
2011
12
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69
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online
1
fulltext
fa
وقوع و سهم تغییرات توالی ژنهای BRCA1/2 در سلول زایشی مبتلایان سرطان پستان
The occurrence and contribution of germline BRCA1/2 sequence alterations in Iranian patients with breast cancer
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<p dir="rtl" style="text-align: justify direction: rtl unicode-bidi: embed" class="MsoNormal"><strong><span style="font-size: 10pt">زمینه و
هدف:</span></strong><strong><span style="font-size: 10pt"> </span></strong><span style="font-size: 10pt">سرطان پستان شایعترین شکل سرطان
وراثتی در جهان است. این سرطان یک علت مهم مرگ و میر میان زنان است. پنج تا 10
درصد از همه موارد سرطان پستان و تخمدان بهعلت جهشهای پرنفوذ ژنهای مستعدکننده
سرطان پستان در سلولهای زایشی میباشد. ژنهای </span><span style="font-size: 7pt">BRCA1</span><span style="font-size: 10pt"> و </span><span style="font-size: 7pt">BRCA2</span><span style="font-size: 10pt"> برای نصف این
موارد در نظر گرفته میشوند، لذا درخواست غربالگری جهشهای این دو ژن رو به افزایش
است. نتایج این تستها بر مدیریت کلینیکی افراد در معرض خطر اثر دارد. هدف از این
تحقیق شناسایی جهشهای این دو ژن در صد خانواده ایرانی با خطر بالای این بیماری
است.</span><span style="font-size: 9pt"> </span><strong><em><span style="font-size: 10pt"><br></span></em></strong></p><p dir="rtl" style="text-align: justify direction: rtl unicode-bidi: embed" class="MsoNormal"><strong><span style="font-size: 10pt">روش بررسی:</span><em><span style="font-size: 10pt"> </span></em></strong><span style="font-size: 10pt">ما
صد خانواده را که حداقل در یکی از گروههای در معرض خطر قرار داشتند، مورد ارزیابی
قرار دادیم. کل توالیهای کددهنده و مرزهای اگزون- اینترون ژنهای </span><span style="font-size: 7pt">BRCA1/2</span><span style="font-size: 10pt"> در اعضای
بیمار این خانوادهها و افراد گروه کنترل بهوسیله توالییابی مستقیم و </span><span style="font-size: 7pt">MLPA</span><span style="font-size: 10pt"> بررسی شد.</span><strong><span style="font-size: 10pt"> </span></strong><strong><em><span style="font-size: 10pt"><br></span></em></strong></p><p dir="rtl" style="text-align: justify direction: rtl unicode-bidi: embed" class="MsoNormal"><strong><span style="font-size: 10pt">یافتهها:</span></strong><span style="font-size: 10pt"> در مطالعه حاضر جهشهای
جدید زیر شناسایی شد: </span><span style="font-size: 8pt">p.</span><span style="font-size: 7pt">G</span><span style="font-size: 8pt">ly</span><span style="font-size: 7pt">1140S</span><span style="font-size: 8pt">er, p.</span><span style="font-size: 7pt">I</span><span style="font-size: 8pt">le</span><span style="font-size: 7pt">26V</span><span style="font-size: 8pt">al, p.</span><span style="font-size: 7pt">L</span><span style="font-size: 8pt">eu</span><span style="font-size: 7pt">1418X</span><span style="font-size: 8pt">, p.</span><span style="font-size: 7pt">G</span><span style="font-size: 8pt">lu</span><span style="font-size: 7pt">23G</span><span style="font-size: 8pt">ln, p.</span><span style="font-size: 7pt">L</span><span style="font-size: 8pt">eu</span><span style="font-size: 7pt">3X</span><span style="font-size: 8pt">, p.</span><span style="font-size: 7pt">A</span><span style="font-size: 8pt">sn</span><span style="font-size: 7pt">1403H</span><span style="font-size: 8pt">is, p.</span><span style="font-size: 7pt">A</span><span style="font-size: 8pt">sn</span><span style="font-size: 7pt">1403A</span><span style="font-size: 8pt">sp, p.</span><span style="font-size: 7pt">L</span><span style="font-size: 8pt">ys</span><span style="font-size: 7pt">581X</span><span style="font-size: 8pt">, p.</span><span style="font-size: 7pt">P</span><span style="font-size: 8pt">ro</span><span style="font-size: 7pt">938A</span><span style="font-size: 8pt">rg, p.</span><span style="font-size: 7pt">T</span><span style="font-size: 8pt">hr</span><span style="font-size: 7pt">77A</span><span style="font-size: 8pt">rg, p.</span><span style="font-size: 7pt">L</span><span style="font-size: 8pt">eu</span><span style="font-size: 7pt">6V</span><span style="font-size: 8pt">al, p.</span><span style="font-size: 7pt">A</span><span style="font-size: 8pt">rg</span><span style="font-size: 7pt">7C</span><span style="font-size: 8pt">ys, p.</span><span style="font-size: 7pt">L</span><span style="font-size: 8pt">eu</span><span style="font-size: 7pt">15I</span><span style="font-size: 8pt">le, p.</span><span style="font-size: 7pt">S</span><span style="font-size: 8pt">er</span><span style="font-size: 7pt">177T</span><span style="font-size: 8pt">hr, </span><span style="font-size: 7pt">IVS7+83(-TT)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS8 -70(-CATT)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS2+9(G>C)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS1-20(G>A)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS1-8(A>G)</span><span style="font-size: 8pt">, p.</span><span style="font-size: 7pt">M</span><span style="font-size: 8pt">et</span><span style="font-size: 7pt">1I</span><span style="font-size: 8pt">le, </span><span style="font-size: 7pt">IVS2+24(A>G)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS5-8 (A>G)</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS2 (35-39) TT</span><span style="font-size: 8pt">cctat</span><span style="font-size: 7pt">GAT</span><span style="font-size: 8pt">, </span><span style="font-size: 7pt">IVS13+9 G>C</span><span style="font-size: 10pt"> در ژن </span><span style="font-size: 7pt">BRCA1</span><span style="font-size: 10pt"> <span lang="AR-SA">و جهشهای </span></span><span style="font-size: 8pt">p.</span><span style="font-size: 7pt">G</span><span style="font-size: 8pt">lu</span><span style="font-size: 7pt">1391G</span><span style="font-size: 8pt">ly, </span><span style="font-size: 7pt">1994-1995</span><span style="font-size: 8pt"> (</span><span style="font-size: 7pt">I</span><span style="font-size: 8pt">ns</span><span style="font-size: 7pt">A</span><span style="font-size: 8pt">), </span><span style="font-size: 7pt">IVS6-70 (T>G)</span><span style="font-size: 10pt"> </span><span style="font-size: 8pt">p.</span><span style="font-size: 7pt">V</span><span style="font-size: 8pt">al</span><span style="font-size: 7pt">1852I</span><span style="font-size: 8pt">le, </span><span style="font-size: 10pt"><span> </span>در ژن </span><span style="font-size: 7pt">BRCA2</span><span style="font-size: 10pt">.</span><strong><em><span style="font-size: 10pt"> <br></span></em></strong></p><p dir="rtl" style="text-align: justify direction: rtl unicode-bidi: embed" class="MsoNormal"><strong><span style="font-size: 10pt">نتیجهگیری:</span><em><span style="font-size: 10pt"> </span></em></strong><span style="font-size: 10pt">ده عدد از کل جهشهای شناساییشده احتمالاً بیماریزا بوده و خانوادههای
با جهشهای بیماریزا 16 درصد کل خانوادههای مورد بررسی را بهخود اختصاص دادند.
بهعلاوه از تعداد کل جایگزینیهای و بازآراییها که 42 عدد بود، 80 درصد آنها
مربوط به ژن </span><span style="font-size: 7pt">BRCA1</span><span style="font-size: 10pt"> و 20 درصد ناشی از ژن </span><span style="font-size: 7pt">BRCA2</span><span style="font-size: 10pt"> بود.</span></p>
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<!--stripped--> <strong>Background:</strong><strong> </strong>Breast
cancer is the most common form of hereditary cancer worldwide and is an
important cause of morbidity and mortality. Approximately 5-10% of breast
and ovarian cancers are
due to the highly penetrating germline mutations in cancer predisposing genes. Two genes, BRCA1 and BRCA2, account for
at least half of these cases. The demand for BRCA1 and BRCA2 mutation screening is rapidly
increasing as their identification will affect the medical management of people
at increased risk for the disease. Therefore, the aim of this study was to
investigate BRCA1/2 mutations in 100 high risk Iranian families.<br><strong>Methods:</strong> <strong> </strong>One hundred families who met the
minimal risk factors for breast/ovarian cancer were screened among
the families referred to Kawsar Human Genetics Research
Center for the diseases in 2009-2011. The entire coding sequences and each
intron/exon boundaries of BRCA1/2 genes were screened for by direct
sequencing and MLPA in both patients and the controls.<br><strong>Results:</strong> <strong> </strong>In the present study, we could detect
the following novel mutations:
p.Gly1140Ser, p.Ile26Val,
p.Leu1418X, p.Glu23Gln,
p.Leu3X, p.Asn1403His,
p.Asn1403Asp, p.Lys581X,
p.Pro938Arg, p.Thr77Arg,
p.Leu6Val, p.Arg7Cys,
p.Leu15Ile, p.Ser177Thr,
IVS7+83(-TT), IVS8 -70(-CATT),
IVS2+9(G>C), IVS1-20(G>A),
IVS1-8(A>G), p.Met1Ile,
IVS2+24(A>G), IVS5-8 (A>G),
IVS2(35-39)TTcctatGAT,
IVS13+9 G>C in BRCA1
and p.Glu1391Gly, p. Val1852Ile,
IVS6-70(T>G), 1994-1995
(InsA) in BRCA2.<br><strong>Conclusion: </strong> Ten mutations seemed to be pathogenic and the disease-causing
mutations were seen in 16% of the families. In addition, from the
total number of substitutions and reassortments (42), 80% related to BRCA1 and 20% to mutations in BRCA2 genes.</p>
سرطان پستان،BRCA1/2،سرطان خانوادگی،جهش ژنی
BRCA1/ genes,breast cancer,familial cancer,Iran
559
570
http://tumj.tums.ac.ir/browse.php?a_code=A-10-25-195&slc_lang=fa&sid=1
Keshavarzi
F
فاطمه
کشاورزی