Identification of Two Novel Pathogenic Variants of the < em > ATM < /em > Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome Sequencing

CONCLUSION: Genetic analysis of three unrelated families with ATM-related disorders discovered two novel pathogenic variants. A homozygous missense pathogenic variant was identified in a woman with bi-lateral breast cancer, and a synonymous but pathogenic variant was found in a family with a history of different cancers.PMID:38327652 | PMC:PMC10845066 | DOI:10.2174/0113892029268949231104165301

Source: Current Genomics - February 8, 2024 Category: Genetics & Stem Cells Authors: Amir-Reza Dalal Amandi Neda Jabbarpour Shadi Shiva Mortaza Bonyadi Source Type: research