TY - EJOU
AU - Duzkale, Neslihan
AU - Demıral, Emine
TI - The Investigation of Genotype-Phenotype Relationship in Multiple Primary Malignant Neoplasia Patients
T2 - Oncologie
PY - 2020
VL - 22
IS - 4
SN - 1765-2839
AB - 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%); BRCA2, MSH6, MLH1, MUTYH, and ATM 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.
KW - Multiple primary malignant neoplasms; hereditary cancer susceptibility genes; next generation sequencing; family history
DO - 10.32604/oncologie.2020.014120