Balkan Journal of Medical Genetics

BRCA 1/BRCA 2 PATHOGENIC/LIKELY PATHOGENIC VARIANT PATIENTS WITH BREAST, OVARIAN, AND OTHER CANCERS
Osman K.1,*, Ahmet K.2, Hilmi T.3, İlker N.O.4, Ercan Ö.5, Devrim Ç.5, Murat S.1, Emre Ç.6, İlhan H.6, Mustafa G.7, Yüksel Ü.7, Bahiddin Y.8, Cihan E.9, Mehmet Ali N. Ş.9, Emrah E.10, Umut D.10, Zeynep O.11, Mehmet Ali K.12, Ali G.2, İvo G.2, Erkan Ö.2, Muhammet B. H.2, Bülent E.2, Selma D.12, Sernaz U.2, Mahmut G.4, Hakan G.12, İrfan Ç.2
*Corresponding Author: Assoc. Prof. Osman Köstek, MD, Marmara University, School of Medicine, Department of Medical Oncology Address: Marmara University, Basıbuyuk Campus, Maltepe, Istanbul, Turkey. Email: osmankostek@hotmail.com, Telephone: +90 554 585 73 90
page: 5

INTRODUCTION

Every cell has DNA damage response mechanisms that protect the genome against the harmful effects of mutations. DNA double-strand breaks are a very dangerous form of DNA damage and can be repaired by homologous recombination repair which includes the breast cancer susceptibility genes BRCA1 and BRCA2. These genes act as a tumor suppressor to promote homologous recombination repair mechanism and their inherited mutations result in homologous recombination repair deficiency and leading to confer significant lifetime risks of breast, ovarian, and other cancers [1]. BRCA-related hereditary breast, ovarian and other cancers have inherited an autosomal dominant condition, for which early identification and intervention have meaningful potential for clinical actionability and a positive impact on public health. In routine practice, genetic testing for these conditions is based on family history and other demographic characteristics [2, 3]. Genetic counseling should be given to the patients with BRCA 1/BRCA 2 carriers and other family members. Due to the fact that BRCA-related cancers are diagnosed at an earlier age than non-BRCA 1/ BRCA 2 carriers, earlier screening program protocols are recommended. On the other hand, there is not enough data on whether the diagnosis age of BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant patients is different than their parents who had BRCA 1/BRCA 2 carriers with cancer. In this study, we aimed to demonstrate the clinical and demographic findings of the patients who harbor BRCA 1/BRCA 2 pathogenic/likely pathogenic variants with breast, genital tract, prostate, and pancreas cancer in Turkish patients.

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