L’annotation Et L’interpretation Des Variants Brca1 / Brca2 Dans Le Cancer De Sein
| dc.contributor.author | BENSEGHIR , Nour elimene | |
| dc.contributor.author | BOUZIANE , Aya | |
| dc.contributor.author | BENCHALAL , Toumia ( Encadrant) | |
| dc.date.accessioned | 2026-09-15T09:48:01Z | |
| dc.date.issued | 2026 | |
| dc.description | ُُعُُ دُُُسُرُطاُُنُاُلُثُُدُيُأُُحُدُأُُكثُُرُاُُلأُوُراُُمُاُلُُخبُيُثُُةُُشيُُوُعاُُُبُيُُنُاُلُنُُساُُءُُعلُُىُاُلُُمُستُُويُيُُنُاُلُُعاُلُُمُيُُواُلُُمُحلُُيُُفُيُاُلُُجُزاُئُُرُ،ُبُُمُختُلُُفُ أُنُُماُُطُهُ .ُُوُفُيُإُُطاُُرُُهُذُهُاُلُُدُراُُسُةُاُلُنُُظُريُُةُ،ُُسلُُُطُاُلُُضُوُءُُعلُُىُُسُرُطاُُنُاُلُثُُدُيُاُلُُوُراُثُُيُ،ُُلاُُسيُُماُُاُلُنُُمُطُاُلُنُاُُجُمُُعُنُُحُدُوُثُ طفراتُأوُمتغيراتُفيُالجينين BRCA1و BRCA2؛ُحيثُيمثلُهذاُالنمطُماُبينُُ%5إلىُُ%10منُمجموعُ إصاباتُسرطانُالثدي(ُموزعةُبنسبةُُ%20إلىُُ%40لحالاتُ، BRCA1وُ%10إلىُُ%30لحالاتُ .) BRCA2 وبهدفُضمانُتصنيفُدقيقُوتفسيرُعلميُسليمُلهذهُالمتغيراتُ،جرىُتقييمُمدىُمساهمةُتقنياتُتسلسلُالجيلُ الجديدُ)ُ، (NGSإلىُجانبُاستعراضُالعديدُمنُقواعدُالبياناتُوالأدواتُالمعلوماتيةُالحيويةُ.تتيحُهذهُالمقارباتُ العلميةُتصنيفُالمتغيراتُالجينية(ُإلىُمتغيراتُحميدةُ،أوُمحتملةُالحموضةُ،أوُممرضة...الخُ)ُاُُستُنُاُُداُُُإُلُُىُُمُعاُيُيُُرُ تصنيفُُمُحُدُدُةُ،ُُوُوُفُقاُُُلُلُتُُوُصيُاُُتُاُلُُصاُُدُرُةُُعُنُاُلُُجُمُعيُُةُاُُلأُمُريُُكيُُةُلُلُُطُبُاُلُُوُراُثُُيُُوُعلُُمُاُلُُجيُنُُوُُ م)(ACMG/AMP وتكمنُأهميةُهذهُالمقاربةُفيُدورهاُالمحوريُلتوجيهُمسارُالتكفلُالسريريُالملائمُ،وترشيدُالخياراتُالعلاجيةُ، ُفُضُلاُُُعُنُإُُسُهاُُمُهاُُاُلُُجُوُهُرُيُُفُيُاُلُُحُدُُمُنُاُلُتُأُثُيُُراُُتُُوُحاُلُُةُاُلُُشُكُاُلُُمُرتُبُُطُةُبُاُلُُمتُُغيُُراُُتُاُلُُجيُنُيُُةُُذاُُتُاُُلأُهُميُُةُُغيُُرُ المعروفة). | |
| dc.description.abstract | Breast cancer is one of the most prevalent cancers among women globally and in Algeria, across all its forms. Within the framework of our theoretical study, we focused on hereditary breast cancer, specifically that induced by mutations or variants in the BRCA1 and BRCA2 genes. This type accounts for 5% to 10% of all breast cancers (with BRCA1 representing 20% to 40% of cases, and BRCA2 representing 10% to 30% of cases). To ensure the annotation and interpretation of these variants, we investigated the contribution of Next-Generation Sequencing (NGS) techniques, as well as multiple databases and bioinformatics tools. These approaches enable us to classify variants (benign, likely benign, pathogenic, etc.) according to specific annotation criteria, following the ACMG/AMP guidelines. This approach helps guide appropriate clinical management, informs therapeutic choices, and most importantly, reduces the impact and uncertainty associated with variants of uncertain significance (VUS) | |
| dc.description.sponsorship | Breast cancer is one of the most prevalent cancers among women globally and in Algeria, across all its forms. Within the framework of our theoretical study, we focused on hereditary breast cancer, specifically that induced by mutations or variants in the BRCA1 and BRCA2 genes. This type accounts for 5% to 10% of all breast cancers (with BRCA1 representing 20% to 40% of cases, and BRCA2 representing 10% to 30% of cases). To ensure the annotation and interpretation of these variants, we investigated the contribution of Next-Generation Sequencing (NGS) techniques, as well as multiple databases and bioinformatics tools. These approaches enable us to classify variants (benign, likely benign, pathogenic, etc.) according to specific annotation criteria, following the ACMG/AMP guidelines. This approach helps guide appropriate clinical management, informs therapeutic choices, and most importantly, reduces the impact and uncertainty associated with variants of uncertain significance (VUS). | |
| dc.identifier.other | MPH/00804 | |
| dc.identifier.uri | https://repository.univ-setif.dz/handle/123456789/2576 | |
| dc.language.iso | fr | |
| dc.publisher | Université Sétif1 Ferhat Abbas. Faculté de Médecine. | |
| dc.subject | cancer du sein | |
| dc.subject | BRCA1/BRCA2 | |
| dc.subject | NGS | |
| dc.subject | VUS | |
| dc.subject | ACMG/AMP | |
| dc.subject | Variants | |
| dc.subject | annotation | |
| dc.title | L’annotation Et L’interpretation Des Variants Brca1 / Brca2 Dans Le Cancer De Sein | |
| dc.type | Thesis |