ناشر تخصصی کنفرانس های ایران

لطفا کمی صبر نمایید

Publisher of Iranian Journals and Conference Proceedings

Please waite ..
Publisher of Iranian Journals and Conference Proceedings
Login |Register |Help |عضویت کتابخانه ها
Paper
Title

PMS2 Novel Mutation In Breast Cancer: A Case Report

PMS2 Novel Mutation In Breast Cancer: A Case Report
Year: 1395
COI: NASTARANCANSER02_031
Language: EnglishView: 258
نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد

Authors

Ehsan Ghayoor Karimiani - Department Of Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran;Honorary Research Associate,University Of Manchester, UK
Mohammad Doosti - Department Of Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran
Najmeh Ahangari - Department Of Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran
Omid Nejati - Department Of Molecular Genetics, Hope Generation Genetic Polyclinic, Mashhad, Iran

Abstract:

Background: Breast cancer is the second most commonly diagnosed cancer in women. In many casesof familial breast cancer the genetic basis for the disease and the mechanism of inheritance areunclear. Breast cancer from mismatch repair (MMR) gene mutation carriers resembles commonbreast carcinoma in many respects. The PMS2 gene encodes a protein that plays an important rolein repairing DNA. Detection of germline mutation in PMS2 is significantly complicated by thepresence of numerous pseudogenes. Methods and Results: We present a woman with familial breastcancer. The pedigree showed the same cases in three generation. Using whole exome sequencingthe heterozygous variant c.2350G> A (p.Asp784Asn) on gene PMS2 gene has been found. To validatethis novel mutation in probands’ healthy daughter, we used a modified long-range PCR method toevaluate PMS2, thus pseudogene interference has beed avoided. Sanger sequencing of PMS2 geneshowed no mutation in her daughter. Conclusion: This novel mutation has not been reported before.The clinical outcome of PMS2 germline mutations are poorly understood compared with other MMRgene mutations. The frequency of this mutation in normal population is very low. Bioinformaticanalysis of the mutation by PolyPhen2 and SIFT showed that the protein will be damaged. Thisamino acid change (Asp to Asn) may affect the function of PMS2.

Paper COI Code

This Paper COI Code is NASTARANCANSER02_031. Also You can use the following address to link to this article. This link is permanent and is used as an article registration confirmation in the Civilica reference:

https://civilica.com/doc/691782/

How to Cite to This Paper:

If you want to refer to this Paper in your research work, you can simply use the following phrase in the resources section:
Ghayoor Karimiani, Ehsan and Doosti, Mohammad and Ahangari, Najmeh and Nejati, Omid,1395,PMS2 Novel Mutation In Breast Cancer: A Case Report,2nd International Nastaran Cancer Symposium,Mashhad,https://civilica.com/doc/691782

Research Info Management

Certificate | Report | من نویسنده این مقاله هستم
این Paper در بخشهای موضوعی زیر دسته بندی شده است:

اطلاعات استنادی این Paper را به نرم افزارهای مدیریت اطلاعات علمی و استنادی ارسال نمایید و در تحقیقات خود از آن استفاده نمایید.

New Papers

Share this page

More information about COI

COI stands for "CIVILICA Object Identifier". COI is the unique code assigned to articles of Iranian conferences and journals when indexing on the CIVILICA citation database.

The COI is the national code of documents indexed in CIVILICA and is a unique and permanent code. it can always be cited and tracked and assumed as registration confirmation ID.

Support