2019 / 04

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DOI: 10.24075/brsmu.2019.045

ORIGINAL RESEARCH

Molecular-genetic and phenotypic characteristics of desmoid-type fibromatosis

Muzaffarova TA1, Novikova OV2, Sachkov IYu3, Kipkeeva FM1, Ginter EK1, Karpukhin AV1
About authors

1 Bochkov Research Center for Medical Genetics, Moscow, Russia

2 Hertsen Moscow Oncology Research Center, Moscow, Russia

3 Ryzhikh State Research Center for Coloproctology, Moscow, Russia

Correspondence should be addressed: Fatima M. Kipkeeva
Moskvorechie 1, Moscow, 115522; ur.liam@1ACRB

About paper

Author contribution: Muzaffarova TA conducted the study, analyzed the literature and wrote the manuscript; Novikova OV, Sachkov IYu provided patients’ samples and medical histories; Kipkeeva FM, Ginter EK analyzed the literature and wrote the manuscript; Karpukhin AV organized the study and revised the manuscript.

Received: 2019-06-25 Accepted: 2019-07-13 Published online: 2019-07-18
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Fig. 1. Age distribution of patients with sporadic DF
Table 1. Mutations in the APC gene in patients with sporadic desmoid fibromatosis
Table 2. Associations between the mutations in the APC gene and different lesion sites/number of desmoid tumors
Table 3. Description of APC mutations and clinical data of patients with FAP and co-occurring DF