@Article{oncologie.2020.014120,
AUTHOR = {Neslihan Duzkale, Emine Demıral},
TITLE = {The Investigation of Genotype-Phenotype Relationship in Multiple Primary  Malignant Neoplasia Patients},
JOURNAL = {Oncologie},
VOLUME = {22},
YEAR = {2020},
NUMBER = {4},
PAGES = {225--234},
URL = {http://www.techscience.com/oncologie/v22n4/40858},
ISSN = {1765-2839},
ABSTRACT = {Multiple primary malignant neoplasms (MPMN) are rare tumors that 
have attracted attention with increasing incidence rates in recent years and where 
cancer susceptibility genes may play a role in their etiology. In this study, it was 
aimed to determine the genotype-phenotype correlation in patients with MPMN.
From January 2018 to January 2020, thirty patients were analyzed for 59 cancer 
susceptibility genes and diagnosed with MPMN, using a large multigene panel 
with Next Generation Sequencing technique (NGS) in Turkey. The mean age of 
first and second cancer diagnosis of cases were calculated as 42.5 and 49.9 
(respectively). These primary cancers were frequently detected in the colon and 
breast, and the interval between diagnosis was 89 months. In 9 of the patients 
(30%); <i>BRCA2</i>, <i>MSH6</i>, <i>MLH1</i>, <i>MUTYH</i>, and <i>ATM</i> were detected as causal genes.
Relatives with cancer of MPMN patients with causative gene carriers were 
detected in higher numbers than non-carrier. According to the logistic regression 
model applied, patients with at least 1 relatives with cancer were found to have a 
0.38-fold increased risk of being a causal gene variant carrier. Hereditary cancer 
susceptibility genes may play an important role in the etiology of MPMN. In 
MPMN cases, detection of the causal gene by genetic analysis; It will enable not 
only to ensure a complete and accurate diagnosis of the sick individual and to 
plan the treatment properly, but also to include the carriers’ relatives in the 
intensive cancer screening, monitoring, and prevention program.},
DOI = {10.32604/oncologie.2020.014120}
}