PMID- 38256138
OWN - NLM
STAT- MEDLINE
DCOM- 20240124
LR  - 20240201
IS  - 1422-0067 (Electronic)
IS  - 1422-0067 (Linking)
VI  - 25
IP  - 2
DP  - 2024 Jan 15
TI  - Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine 
      Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular 
      Mechanisms and Possible Functional Implications.
LID - 10.3390/ijms25021065 [doi]
LID - 1065
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by tumors 
      in multiple organs. Although being a dominantly inherited monogenic disease, 
      disease phenotypes are unpredictable and differ even among members of the same 
      family. There is growing evidence for the role of modifier genes in the 
      alteration of the course of this disease. However, genome-wide screening data are 
      still lacking. In our study, we addressed the different outcomes of the disease, 
      focusing on pituitary and adrenocortical tumors. By means of exome sequencing we 
      identified the affected signaling pathways that segregated with those symptoms. 
      Most significantly, we identified damaging alterations in numerous structural 
      genes responsible for cell adhesion and migration. Additionally, in the case of 
      pituitary tumors, genes related to neuronal function, survival, and morphogenesis 
      were repeatedly identified, while in patients with adrenocortical tumors, TLR10, 
      which is involved in the regulation of the innate immunity, was commonly 
      modified. Our data show that using exome screening, it is possible to find 
      signatures which correlate with the given clinical MEN1 outcomes, providing 
      evidence that studies addressing modifier effects in MEN1 are reasonable.
FAU - Skalniak, Anna
AU  - Skalniak A
AUID- ORCID: 0000-0001-7871-9347
AD  - Department of Internal Medicine, Jagiellonian University Medical College, 31-066 
      Krakow, Poland.
FAU - Trofimiuk-Muldner, Malgorzata
AU  - Trofimiuk-Muldner M
AUID- ORCID: 0000-0001-5247-9760
AD  - Department of Endocrinology, Jagiellonian University Medical College, 30-688 
      Krakow, Poland.
FAU - Surmiak, Marcin
AU  - Surmiak M
AUID- ORCID: 0000-0001-8396-1488
AD  - Department of Internal Medicine, Jagiellonian University Medical College, 31-066 
      Krakow, Poland.
FAU - Toton-Zuranska, Justyna
AU  - Toton-Zuranska J
AUID- ORCID: 0000-0001-5970-238X
AD  - Center for Medical Genomics-OMICRON, Jagiellonian University Medical College, 
      31-034 Krakow, Poland.
FAU - Jabrocka-Hybel, Agata
AU  - Jabrocka-Hybel A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 30-688 
      Krakow, Poland.
FAU - Hubalewska-Dydejczyk, Alicja
AU  - Hubalewska-Dydejczyk A
AD  - Department of Endocrinology, Jagiellonian University Medical College, 30-688 
      Krakow, Poland.
LA  - eng
GR  - 2015/17/N/NZ5/00129/National Science Center/
PT  - Journal Article
DEP - 20240115
PL  - Switzerland
TA  - Int J Mol Sci
JT  - International journal of molecular sciences
JID - 101092791
SB  - IM
MH  - Humans
MH  - *Multiple Endocrine Neoplasia Type 1/diagnosis/genetics
MH  - Exome
MH  - Cell Adhesion
MH  - *Adrenal Cortex Neoplasms
MH  - Signal Transduction/genetics
PMC - PMC10816043
OTO - NOTNLM
OT  - adrenocortical tumors
OT  - multiple endocrine neoplasia type 1 (MEN1)
OT  - pituitary tumors
OT  - whole-exome screening
COIS- The authors declare that they have no conflicts of interest.
EDAT- 2024/01/23 06:44
MHDA- 2024/01/24 06:42
PMCR- 2024/01/15
CRDT- 2024/01/23 01:12
PHST- 2023/12/05 00:00 [received]
PHST- 2024/01/09 00:00 [revised]
PHST- 2024/01/12 00:00 [accepted]
PHST- 2024/01/24 06:42 [medline]
PHST- 2024/01/23 06:44 [pubmed]
PHST- 2024/01/23 01:12 [entrez]
PHST- 2024/01/15 00:00 [pmc-release]
AID - ijms25021065 [pii]
AID - ijms-25-01065 [pii]
AID - 10.3390/ijms25021065 [doi]
PST - epublish
SO  - Int J Mol Sci. 2024 Jan 15;25(2):1065. doi: 10.3390/ijms25021065.