ارتباط طفرات BRCA2 مع النمط الفصيصي لسرطانة الثدي الغزوية

الملخص EN

Previous studies pointed out that there is an association between BRCA2 gene mutations and invasive lobular breast cancers, so we aimed through this study to investigate that possible correlation in a group of Syrian patients with early onset invasive breast cancer.

25 early onset invasive breast cancer patients from different Syrian families and 10 healthy women as a control group were included in the study.

DNA was isolated from blood samples and then polymerase chain reaction (PCR) was performed to amplify specific regions (hotspots); exon 9 and exon 11 of BRCA2 gene.

PCR products were then sequenced to investigate the presence of genetic variations.

Sequencing of PCR products revealed five novel mutations in the studied regions, including three deletions and two substitutions.

To our knowledge, the detected mutations were not mentioned in any previous study.

As conclusion, patients with lobular type of invasive breast cancer may be potent candidates for the genetic testing applied to investigate BRCA2 gene mutations.

Lobular type had a stronger association with breast cancer hormonal risk factors as compared to ductal type.

It is also expected that the clinical response of lobular tumors to hormonal therapies is better than that of ductal tumors.