18
POT1
Hereditary Hematologic Malignancies
Preface
1
Introduction
2
HHM Clinics at VUMC
3
ANKRD26
4
RUNX1
5
ETV6
6
CEBPA-Associated Familial Acute Myeloid Leukemia
7
GATA2 Deficiency
8
SAMD9_SAMD9L Syndromes
9
Germline Predisposition due to Alterations in RAS-MAPK Pathway
10
Down Syndrome
11
Bloom Syndrome
12
Telomere Biology Disorders
13
Fanconi Anemia
14
Ribosomopathies
15
Severe Congenital Neutropenia
16
UBA1
17
DDX41
18
POT1
19
MDM4 deficiency
20
Classical Phenotype-Genotype Causations
21
Summary
References
18
POT1
Located on 7q31.33
POT1 tumor predisposition syndrome (aka
Cancer Predisposition syndrome with long telomeres (CPLT)
)
Look at Gene Reviews journal
17
DDX41
19
MDM4 deficiency