Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology

Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology

BRCA1 and BRCA2 are the most commonly mutated breast cancer susceptibility genes that convey a high risk of breast and ovarian cancer. Most BRCA1 or BRCA2 mutation carriers have inherited a single heterozygous mutation. In recent years, very rare cases with biallelic or trans double heterozygous mut...

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Bibliographic Details
Main Authors: Yosr Hamdi, Maroua Boujemaa, Najah Mighri, Nesrine Mejri, Olfa Jaidane, Sonia Ben Nasr, Hanen Bouaziz, Jamel Ben Hassouna, Aref Zribi, Yossra Berrazaga, Haifa Rachdi, Nouha Daoud, Houda El Benna, Soumaya Labidi, Abderrazek Haddaoui, Khaled Rahal, Farouk Benna, Hamouda Boussen, Sonia Abdelhak, Samir Boubaker
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Genetics
Subjects:
breast cancer susceptibility
whole exome sequencing
Cis double heterozygosity
BRCA2 mutations
early age of onset
phenotype genotype correlation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.674990/full

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