Characterization of Mutations Present in BRCA1, BRCA2 and P53 Genes Amongst Egyptian Breast Cancer Women / (Record no. 166144)
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| fixed length control field | 07779namaa22004451i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223033222.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240106s2023 ua a|||f |m|| 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GICUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GICUC |
| Modifying agency | EG-GICUC |
| Description conventions | rda |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| Language code of summary or abstract | eng |
| -- | ara |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposit |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.99449 |
| Edition number | 21 |
| 092 ## - LOCALLY ASSIGNED DEWEY CALL NUMBER (OCLC) | |
| Classification number | 616.99449 |
| Edition number | 21 |
| 097 ## - Thesis Degree | |
| Thesis Level | Ph.D |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.12.25.Ph.D.2023.Sh.C |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Shaza Ahmed Habib, |
| Relator term | preparation. |
| 245 10 - TITLE STATEMENT | |
| Title | Characterization of Mutations Present in BRCA1, BRCA2 and P53 Genes Amongst Egyptian Breast Cancer Women / |
| Statement of responsibility, etc. | by Shaza Ahmed Habib; Prof. Dr.Ahmed Abdo El-Sherif, Prof. Dr.AbdelWahab El Ghareeb, Prof. Dr.Samah Ali Loutfy, Prof. Dr.Mohamed Mounir. |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | توصيف الطفرات الموجودة في جينات BRC2,BRCA1 و P53 فى النساءالمصابات بسرطان الثدى في مصر |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 2023. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 138 pages : |
| Other physical details | illustrations ; |
| Dimensions | 25 cm. + |
| Accompanying material | CD. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | Unmediated |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | volume |
| Source | rdacarrier |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D)-Cairo University, 2023. |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE | |
| Bibliography, etc. note | Bibliography: pages 121-136. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Interestingly, familial and non-familial BC patients were shown to have<br/>either IDC or DCIS in comparison to ILC yet there was no significant<br/>difference (P=0.079).<br/>Remarkably, there was a significant difference among familial and nonfamilial<br/>BC patients who received HT (P=0.038) in single or more than<br/>one exon mutation in both genes: BRCA1 and BRCA2.<br/>Furthermore, statistical analysis revealed that there was a significant<br/>difference (P=0.018) among tumor stages I, II and IV in the presence of<br/>multiple P53 exon mutations in familial and non-familial BC patients.<br/>Herein, a total of 112 deleterious mutations were identified in BRCA1<br/>(52 mutations), BRCA2 (24 mutations) and P53 (36 mutations) by Sanger<br/>sequencing. Most of the deleterious mutations recognized were frameshift,<br/>synonymous, non-synonymous and intronic mutations. A total of 32<br/>frameshift mutations comprised as 14, 6 and 12 mutations in BRCA1,<br/>BRCA2 and P53 respectively.<br/>While a total of 21 nonsynonymous mutations were found as 7,13 and 1 in<br/>BRCA1, BRCA2 and P53 respectively. As for synonymous mutations they<br/>were found as 2 and 5 in BRCA1 and BRCA2 respectively. A total of 52<br/>intronic mutations were found in BRCA1 exons 11, 13 and 20 represented<br/>as 9, 2 and 18 respectively. While P53 gene exons 5 and 8 constituted of<br/>intronic mutations represented as 3 and 20 respectively.<br/>Deleterious mutations identified in BRCA1 gene exon 11 and 13 and 20<br/>were all found to be intronic mutations with a likelihood of affecting<br/>binding sites for transcription factors. This was most likely found in variant<br/>g.34708 T>W(T/A) (66.6%) for exon 11. Mutations in BRCA1 exon 19<br/>were most likely found in a coding sequence regions mostly found in<br/>c.5345delA (35.7%) and c.T5320C (42.85%). Moreover, c.5337delA<br/>English Summary<br/>134<br/>(21.42%) mutation is suggested to be a novel mutation since it was not<br/>reported previously on ExAC, 1000G, gnomAD or Clinvar.<br/>All of the deleterious mutations recognized in BRCA2 gene exon 11F<br/>were likely to be found in a coding sequence regions mostly found as<br/>c.3528delA (50%) and 3840T>G (53.8%). Moreover, 5 mutations are<br/>suggested to be a novel mutation since they were not reported previously<br/>on ExAC, 1000G, gnomAD or Clinvar.<br/>Frameshift mutations in P53 gene exon 5 mostly found in c.813insC<br/>(72.7%) which was reported by SIFT and Clinvar to be damaging<br/>mutation. While exon 8 mutations where all found to be intronic (mostly<br/>found in g.13879delT (45%)), yet there is likelihood of affecting binding<br/>sites for transcription factors.<br/>In conclusion HRM is a cost effective, sensitive, fast and very useful<br/>tool to screen for mutations in high penetrance BC genes; BRCA1, BRCA2<br/>and P53 among Egyptian BC Women. Moreover, herein in this study the<br/>light was shed on new hot spot mutations among the Egyptian population<br/>that needs larger patients sample to be studied since all research findings<br/>underline the importance of the development of Egyptian BC mutational<br/>database taking into consideration some clinical and pathological criteria<br/>that can help in treatment modalities. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | : زاد معدل الإصابة بسرطان الثدي زيادة كبيرة بين النساء في مصر التي تمثل نسبه 32٪ من حالات السرطان. على الرغم من أن سرطان الثدي يمكن اعتباره مرضًا يمكن علاجه بشكل كبير عند اكتشافه مبكرًا. ومع ذلك، بسبب الوضع الاقتصادي الهش في الشرق الأوسط ونقص الوعي، تتميز النساء بالتشخيص المتأخر، وبالتالي، هناك حاجة ملحة لأداة إنذار مبكرة رخيصة. لذلك، كان الهدف من الدراسة الحالية هو إنشاء تقنية(HRM) كأداة تنبؤ اقتصادية لتحديد الطفرات الضارة في BRCA1 و BRCA2 و P53 .<br/>المرضى والطرق: تم استخراج الحمض النووي الجيني من 150 مريضًا مصريًا للاختبار الجيني الجزيئي باستخدام HRM لـBRCA1(exons 11,13,19,20) ، BRCA2 (exons 11)، و P53 (exons 5,7,8) التي تم تقسيمها على النحو التالي: 50 عينة عائلية ، و 50 عينة غير عائلية و 50 حاله سليمه ليس بها سرطان ثدي. بناءً على نتائج فحص الطفرات التي تم الحصول عليها من HRM، تم بعد ذلك اختيار العينات لتسلسل سانجر. بعد ذلك، تم تحليل الطفرات التي تم الحصول عليها باستخدام برامج مختلفة مثل Polyphen و Clinvar و SIFT لتحديد مسببات الطفرات.<br/>النتائج : تم فحص 552 طفرة بواسطة تقنية HRM بين جميع المرضى. كشف التحليل الإحصائي للرابط المحتمل بين وجود واحد أو أكثر من الإكسونات بين الجينات BRCA1 و BRCA2 و P53 أنه تم العثور على مستقبل هرموني PR له أهمية كبيرة في وجود طفرة متعددة من إكسونات في BRCA1 ، و وجد أن المرضى الذين تلقوا العلاج الهرموني لديهم اختلاف كبير بالمقارنة مع مرضى سرطان الثدي الذين لم يتلقوا. بالإضافة إلى ذلك، 112 طفرة ضارة في BRCA1، BRCA2 وP53 وجدت في الغالب على أنها طفرات مترادفة وغير مترادفة. فيما يتعلق بـ BRCA1، تم العثور على معظم الطفرات على أنها (c.5345delA (35.7٪ والتي يُقترح أيضًا أن تكون طفرة جديدة. بالإضافة إلى ذلك، تم اقتراح 5 طفرات ضارة تم التعرف عليها في إكسون الجين BRCA2 11F كطفرة جديدة نظرًا لعدم الإبلاغ عنها مسبقًا.<br/> |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issues also as CD. |
| 546 ## - LANGUAGE NOTE | |
| Language note | Text in English and abstract in Arabic & English. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | BRCA genes |
| 653 #0 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Breast Cancer |
| -- | BRCA1 |
| -- | BRCA2 |
| -- | HRM&Sanger Sequencing |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmed Abdo El-Sherif |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | AbdelWahab El Ghareeb |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Samah Ali Loutfy |
| Relator term | thesis advisor. |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohamed Mounir |
| Relator term | thesis advisor. |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 900 ## - EQUIVALENCE OR CROSS-REFERENCE-PERSONAL NAME [LOCAL, CANADA] | |
| Numeration | 01-01-2023 |
| Titles and other words associated with a name | Ahmed Abdo El-Sherif |
| -- | Samah Ali Loutfy |
| -- | AbdelWahab El Ghareeb |
| -- | Mohamed Mounir |
| Dates associated with a name | Ayman Diab |
| -- | Gehan Safwat |
| Universities | Cairo University |
| Faculties | Faculty of Science |
| Divisons | Department of Biotechnology |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Huda |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Edition | 21 |
| Suppress in OPAC | No |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type |
|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | Not for loan | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.12.25.Ph.D.2023.Sh.C | 01010110087986000 | 06.01.2024 | Thesis |