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Familial glioma

Written2018-09Riccardo Bazzoni, Angela Bentivegna
School of Medicine and Surgery, University of Milan-Bicocca, via Cadore, Monza, Italy (RB,AB); 2 NeuroMI, Milan center of Neuroscience, University of Milan-Bicocca, Dept. of Neurology and Neuroscience, San Gerardo Hospital, via Pergolesi, Monza, Italy (AB);
Abstract Glioma is the most common brain tumor, characterized by several histological and malignancy grade. The majority of gliomas are sporadic, but some familial cases have been reported (<5%). Despite hereditary predisposition to gliomas has been associated to rare inherited cancer syndromes, such as Li-Fraumeni and Turcot's syndromes, neurofibromatosis and tuberous sclerosis, not all familial gliomas can be explained by these syndromes. Most familial gliomas seem to be characterized by cluster of two cases, suggesting the involvment of low penetrance factor risks. Moreover, no sex-linked disorders or SNPs on the X chromosome have been associated with increased glioma risk, except for ATRX gene, whose loss-of-function has been observed in 20 % of adult oligodendrogliomas and in 80 % of grade 2 and 3 astrocytomas. Finally, the risk to inherit tumors such as glioma could also be related to combinations of multiple risk variants: besides GWAS analysis identified many SNPs involved in familial gliomas at 5p15.33 (TERT), 7p11.2 (EGFR), 8q24.21 (CCDC26), 9p21.3 (CDKN2A/CDKN2B), 11q23.3 (PHLDB1) and 20q13.33 (RTEL1), mutatio could be associated with the risk of glioma ns in POT1 gene and rare variants in SPAG9 and RUNDC1 genes could be associated with the risk of glioma.

Keyword Familial glioma, glioma

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Atlas_Id 10123
Note Primary central nervous system (CNS) tumors can be divided into gliomas and non-gliomas. For the more recent classification of gliomas (2016 WHO classification), see Table 1.
Glioma entityWHO Grade
Diffuse astrocytic and oligodendroglial tumors Diffuse astrocytoma, IDH-mutantII
- Gemistocytic astrocytoma, IDH-mutantII
Diffuse astrocytoma, IDH-wildtypeII
Diffuse astrocytoma, NOSII
Anaplastic astrocytoma, IDH-mutantIII
Anaplastic astrocytoma, IDH-wildtypeIII
Anaplastic astrocytoma, NOSIII
Glioblastoma, IDH-wildtypeIV
- Giant cell glioblastomaIV
- GliosarcomaIV
- Epithelioid glioblastomaIV
Glioblastoma, IDH-mutantIV
Glioblastoma, NOSIV
Diffuse midline glioma, H3K27M-mutantIV
Oligodendroglioma, IDH-mutant and 1p/19q-codeletedII
Oligodendroglioma, NOSII
Anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted   III
Anaplastic oligodendroglioma, NOSIII
Oligoastrocytoma, NOSII
Anaplastic oligoastrocytoma, NOSIII
Other (astrocytic) gliomasPilocytic astrocytoma I
- Pilomyxoid astrocytomaII
Subependymal giant cell astrocytomaI
Pleomorphic xanthoastrocytomaII
Anaplastic pleomorphic xanthoastrocytomaIII
Ependymal tumors SubependymomaI
Myxopapillary ependymomaI
- Papillary ependymomaII
- Clear cell ependymomaII
- Tanycytic ependymomaII
Ependymoma, RELA fusion-positiveII or III
Anaplastic ependymomaIII
Other gliomasAngiocentric glioma I
Chordoid glioma of third ventricleII
AstroblastomaLow/high grade


Note Gliomas represent 30% of all brain and central nervous system (CNS) tumors and 80% of all malignant brain tumors. The most common and malignant glioma is glioblastoma multiforme (GBM) (Goodenberger and Jenkins, 2012). Although there are several histologic types of gliomas, the incidence rates for all sporadic gliomas range from 4.67 to 5.73 per 100,000 persons (Barbagallo et al., 2016). Gliomas are more common in men than in women and in white rather than in black population (Ostrom et al., 2013). Anyway, familial glioma cases are similar to sporadic ones in terms of gender distribution, age, morphology and grade as shown in Table 2 (results from Gliogene Consortium (Sadetzki et al., 2013).
 TotalIncident* (diagnosed from 2007)Prevalent* (diagnosed before 2007)
  TotalEurope & IsraelUSTotal
n=376 familiesn=219 familiesn=73 familiesn=146 familiesn=157 families
n=841 gliomasn=481 gliomasn=159 gliomasn=322 gliomasn=360 gliomas
  M/F ratio (all)1.15 1.25 1.14 1.18 1.10 
Age at diagnosis ** (n=831)          
  Mean SD49.4 18.7 51.0 19.051.1 16.450.9 20.147.2 18.1 
  Range1-92 1-924-821-921-91 
Tumor grade *** (n=739)          
Age at diagnosis by grade *****           
  Grades I-II37.2 16.1 38.5 17.442.7 16.235.3 17.835.9 14.8 
  Grades III-IV54.8 16.4 55.8 16.4 55.1 14.8 56.1 17.2 53.4 16.3 
Tumor grade by gender (n=739) ****          
  Grades I-II total200100971004210055100103100
  Grades III-IV total53910032610010810021100213100

Table 2 | Distribution of glioma cases by date of diagnosis* and selected demographic and clinical characteristics. *When the glioma in the proband was diagnosed from 2007 all gliomas in the family were included in the incident cases column; when the glioma in the proband was diagnosed before 2007 all gliomas in the family were included in the prevalent cases column; **Excluding three cases with unknown age at diagnosis; comparison between mean age at diagnosis of incident and prevalent p = 0.003; ***p-value = 0.00009 (total incidents versus prevalent); ****For 92 cases of the 831 verified tumours, tumour histological behavior was unknown, and for 58 cases of the 481 verified tumours from the total incident cases, tumour histological behavior was unknown; *****For grades I-II p-value = 0.3 (total incident versus total prevalent). [Modified from Sadetzki et al., 2013]
Neoplastic risk ENVIRONMENTAL: Some epidemiologic risk factors might lead to development of glioma such as therapeutic ionizing radiation, pesticides, smoking, petroleum refining or production work and employment in synthetic rubber manufacturing (Alifieris and Trafalis, 2015). An inverse association between glioma incidence and allergies, atopic diseases and systemic infections has been reported by multiple groups (Goodenberger and Jenkins, 2012).
FAMILIARITY: Excluding those gliomas known to be due to rare hereditary cancer syndromes such as Turcot's and Li-Fraumeni syndromes as well as neurofibromatosis ( NF1, NF2) or tuberous sclerosis (Melin et al., 2017), there is evidence that gliomas cluster in families. Most familial gliomas appear to comprise clusters of two cases, suggesting low penetrance and a low risk of developing additional gliomas (Sadetzki et al., 2013). It is currently thought that approximately 5-10% of patients have a family history of glioma (Lindor et al., 2008, Robertson et al., 2010). An increased risk of developing primary brain tumors among first-degree relatives of patients with gliomas has been shown (Robertson et al., 2010), and there is a greater risk for first-degree relatives of probands with a younger age of onset than for first-degree relatives of probands with later onset (Malmer et al., 2003, Blumenthal and Cannon-Albright, 2008), as shown in Table 3.
 Cancer in probandCancer in relativeNo. relativesObservedExpectedRRp Value
AAstrocytoma/GBMAstrocytoma/GBM  11,4983811.63.29 <0.00001
BAstrocytoma/GBMAstrocytoma/GBM  36,6503125.31.220.15
CAstrocytoma/GBM <20y (n=214)  Astrocytoma/GBM  1,05940.66.440.004
Astrocytoma <15y (n=161)Astrocytoma80130.39.650.004
GBM <55y (n=187)GBM1,47000.7--

Table 3 | Relative risks (RR) for brain tumor among: first-degree relatives of patients (A), second-degree relatives of patients (B), first-degree relatives of patients with early onset brain tumor (C). [Modified from Blumenthal and Cannon-Albright, 2008].
Anyway, the third-degree relative risks were not significantly elevated for astrocytoma, GBM or for the two types combined (Blumenthal and Cannon-Albright, 2008). However, familial aggregation of cancer can indicate a genetic etiology but may also indicate shared familial environmental exposures. Unfortunately, a multifactorial inheritance model could not be clearly rejected (Table 4) (de Andrade et al., 2001, Malmer et al., 2001, Shete et al., 2011).
Observed CancersPatients NumbersRelatives NumbersEtiology of Familial CancersStudiess
Clustering of multiple cancers in relatives of glioma patients.639 (under age 65 years)5088
(first degree:3810,
second degree: 1278)
Multigenic action (unknown environmental exposure)de Andrade et al. (2001)
SIR 5.08 (FDRs, 45 years) melanoma, brain tumors, sarcoma; SIR 0.95 (FDRs, 45 years).1476 (under age 75 years)8746
(all first degree)
Unknown similar genetic contributionScheurer et al. (2007)
SIR 1.1, 95% CI 0.8-1.4 for all cancers (melanoma:SIR 4.0, 95% CI 1.5-8.8; meningioma: SIR 5.5, 95% CI 1.1-16).Multiple adult glioma patients in 17 Finnish families Unknown cancer susceptibility traitPaunu et al. (2002)
RR 3.29, 95% CI: 2.33-4.51, P 0.00001
RR 1.22, 95% CI: 0.83-1.74, P 0.15.
UPDB* in 1401 primary brain tumor cases with at least 3 generations of genealogy dataFirst degree: 11 498
Second degree: 36 650
Heritable glioma risk and shared environmentBlumenthal and Cannon-Albright (2008)

Table 4 | Epidemologic studies in families with gliomas and other tumors. *Utah Population Data Base; RR=risk relative; CI=confidential interval; SIR=standardized incidence ratio; FDR=first-relative degree [Modified from Kyritsis et al., 2010]
The variation in inherited risk of glioma could be related to combinations of multiple risk variants. Here, we reported the most significant variants (SNPs) figured out from GWASs (Table 5 and 6).
Gene and/or
chromosome location
SNPOdds RatioRisk Allele
Frequency (controls)
Associated Glioma SubtypeOther Association
rs27361001.350.50All glioma subtypesIncreases risk of cancer at other sites, including
lung, testis, pancreas and colon
All glioma subtypes 
CCDC26 (8q24.21)rs557058575.000.05Oligodendroglial
astrocytic tumors
CDKN2B (9p21.3)rs1412829

1.30.41Astrocytic tumors,
WHO grades II-IV
PHLDB1 (11q23.3)rs4988721.500.32IDH-mutant gliomas 
TP53 (17p13.1)rs783782222.700.01All glioma subtypesIncreases risk of several Li-Fraumeni tumors, including
basal cell carcinoma, prostate cancer, GBM and colorectal Adenoma
RTEL1 (20q13.33)rs60106201.400.75All glioma subtypes 
ETFA (15q24.2)rs180591 1.20 All glioma subtypes 
1p31.3rs1275525521.180.87All glioma subtypes 
1q32.1rs42527071.120.22All glioma subtypes 
1q44rs120763731.090.84All glioma subtypes 
2q33.3rs75722631.110.76All glioma subtypes 
3p14.1rs117068321.080.46All glioma subtypes 
10q24.33rs115980181.100.46All glioma subtypes 
11q14.1rs112332501.140.87All glioma subtypes 
11q21rs71077851.070.48All glioma subtypes 
14q12rs101310321.170.92All glioma subtypes 
All glioma subtypes 
16q.12.1rs108526061.140.71All glioma subtypes 
22q13.1rs22355731.090.51All glioma subtypes 
rs1116960670.89 All glioma subtypes 
ZBTB16 (11q23.2)rs6480441.10 All glioma subtypes 
Intergenic (12q21.2) rs122301720.88 All glioma subtypes 
POLR3B (12q23.3) rs38516340.87 All glioma subtypes 

Table 5 | Heritable variants associated with glioma risk from GWASs. Data from Kinnersley et al., 2015, Kinnersley et al., 2015, Melin et al., 2017, Ostrom et al., 2014.
Type of polymorphismGenetic LocusGlioma riskStudies
1013 glioma cases, 1016 controls, 1127 SNPs, and 388 putative functional SNPs in 136 DNA repair genes.rs243356 (intron 3 CHAF1A gene).OR 1.32Bethke et al. (2008)
217 cases, 1171 controls IL-4Rα, IL-13, Cyclooxygenase-2.rs1805015, rs1801275 (T-G IL-4Rα haplotype).OR 2.26Schwartzbaum et al. (2007)
456 cases and 541 controls IL-4 and IL-13 pathways.A IL-4 haplotype, borderline increased risk
A rare IL-4 haplotype, decreased risk
A common IL-13 haplotype, decreased risk.
OR 1.5
OR 0.23
OR 0.73
Wiemels et al. (2007)
309 patients with newly diagnosed glioma; 342 control subjects; XRCC1, XRCC3, RAD51, XRCC7, p53.XRCC7 G6721T (GT heterozygotes)
TT genotype increased in cases.
OR 1.78
OR 1.86
Wang et al. (2004)
1005 glioma cases; 1101 controls; MTHFR C677A and A1298C, MTRR A66G, and MTR A2756G variants.
MTHFR C677T A1298C diplotypes, increased risk.OR 1.23Bethke et al. (2009)
771 glioma patients; 752 controls; LIG4 and XRCC4 SNPs.Single locus: variant LIG4 SNP2 rs3093739:T > C, increased risk;
3 locus: LIG4 SNP4 rs1805388:C > T, XRCC4 SNP12 rs7734849:A > T, SNP15 rs1056503:G > T; more than additive increased risk P = .001
 Liu et al. (2008)
373 Caucasian glioma patients; 365 Caucasian controls; ERCC1, XRCC1, APEX1, PARP1, MGMT, LIG1, SNPs.6 SNPs (ERCC1 3'UTR, XRCC1 R399Q, APEX1 E148D, PARP1 A762V, MGMT F84L, and LIG1 5'UTR) increased glioma risk; MGMT F84L, main risk factor; MGMT F84L plus PARP1 A762V, dramatic increase glioma risk.OR 5.95Liu et al. (2009)
701 glioma cases; 1560 controls; XRCC1 and XRCC3 SNPs.Studied SNPs, not increased risk; SNP combinations: homozygous genotypes,
XRCC1 Gln399Gln and XRCC3 Met241Met, 3-fold glioma risk.
OR 3.18Kiuru et al. (2008)
1005 cases; 1011 controls; CASP8 D302H polymorphism.Carriers, 1.37 increased risk.OR 1.37Bethke et al. (2008)
CASP8, CCND1, CCNH, CDKN1A, CDKN2A, CHEK1, CHEK2, MDM2, PTEN, TP53 polymorphisms.CCND1 Ex4-1G > A and CCNH Ex8 + 49T > C variants, increased glioma risk;
MDM2 Ex12 + 162A > G, reduced glioma risk.
 Rajaraman et al. (2007)
236 glioma patients; 366 controls; MMP-1, MMP-3, MMP-9 polymorphisms.MMP-1 -1607 1G/1G genotype and MMP-1 1G-MMP-3 6A haplotype may play protective role in the development of adult astrocytoma.OR 0.45Lu et al. (2007)
771 glioma patients; 752 healthy controls XRCC5, XRCC6, XRCC7 polymorphisms.XRCC5 haplotype 'CAGTT,' 40% reduction in glioma risk.OR 0.60Liu et al. (2007)

Table 6 | Representative recent studies describing genetic polymorphism linked to glioma risk. OD= odd ratio [Modified from Kyritsis et al., 2010]
A particular attention goes to POT1 gene, which belongs to the telomere-shelterin complex. Indeed, Bainbridge et al. found two different mutations in POT1 in two families (A and B) (Bainbridge et al., 2015). In family A, six individuals had POT1 mutation (NM_015450:p.G95C, HG19:chr7:g.124503667C>A), of whom three developed glioma. In family B, also six individuals had POT1 mutation (NM_015450:p.E450X, HG19:chr7:g.124481048C>A) and two developed glioma. Moreover, they identified, in a third family (C), a third protein-changing mutation (NM_015450:p.D617Efs*8, HG19:chr7:g.124464068TTA>T). In families with POT1 mutations, they reported that the affected members suffered from oligodendroglioma, which is substantially sensitive to irradiation. Anyway, the association between familial glioma and POT1 mutations still needs to be validated.
Jalali et al. figured out that MYO19 and KIF18B genes and rare variants in SPAG9 and RUNDC1 are potentially involved in familial gliomas (Jalali et al., 2015).
MENDELIAN CANCER SYNDROMES: A heritable genetic contribution to gliomagenesis was initially suggested by the increased incidence of these tumors in families with Mendelian cancer syndromes (Table 7). Although numerous familial cancer syndromes are associated with increased glioma risk, monogenic Mendelian disorders account for only a small proportion of adult glioma incidence at the population level (Ostrom et al., 2014). However, germline mutations of PTEN, TP53, CDKN2A p16(INK4A)/p14(ARF), and CDK4 are not common events in familial glioma, but occasionally they may account for a subset of familial glioma cases (Tachibana et al., 2000). Several syndromes are associated to pediatric glioma (Ripperger et al., 2017).
Disorder/Syndrome (OMIM code)Gene name (chromosome location)Mode of inheritanceAssociated gliomas
Neurofibromatosis 1 (#162200)NF1 (17q11.2)DominantAstrocytoma
Neurofibromatosis 2 (#607379)NF2 (22q12.2)DominantEpendymoma
Tuberous sclerosis(#191100; #613254)TSC1 (9q34.14)
TSC2 (16p13.3)
DominantGiant cell astrocytoma
Lynch syndrome/Turcot's syndrome (type 1)(#120435; #276300)
constitutional mismatch repair deficiency syndrome( CMMRDS#276300)
MSH2 (2p21)
MLH1 (3p22.2)
MSH6 (2p16.3)
PMS2 (7p22.1)
Dominant and recessiveGlioblastoma, other gliomas , childhood cancer for recessive form
Turcot's syndrome (type 2)(#175100)APC (5q22.2)Probably recessivePrimary brain tumor
Li-Fraumeni syndrome/Families with patients with multifocal glioma, glioma + second cancer (#137800)  TP53 (17p13.1)DominantGlioblastoma, other gliomas
Melanoma-neural system tumor syndrome (#155755)p16/CDKN2A (9p21.3)DominantGlioma
Ollier disease/Maffucci syndrome (#166000;#614569)IDH1 (2q33.3)
IDH2 (15q26.1)
Acquired postzygotic mosaicism;
dominant with reducedpenetrance
Retinoblastoma (#180200)RB1 (13q14.2)DominantGlioblastoma, other gliomas
FANCD1(# 605724), GLM3(#613029)BRCA2 (13q13.1) RecessiveGlioma, multicentric GBM

Table 7 | Known germline gene mutations associated with increased risk of glioma. Data from Ostrom et al., 2014, Kyritsis et al., 2010.
To date, no sex-linked disorders have been associated with increased glioma risk, nor has any SNP on the X chromosome been identified as a glioma risk factor in previous genome-wide association studies. However, somatic loss of-function mutations in the X chromosome gene Alpha thalassemia/mental retardation syndrome X-linked (ATRX) have been observed in 20 % of adult oligodendroglioma tumors and in 80 % of grade 2 and 3 astrocytomas (Osorio et al., 2015).
Treatment Multimodal therapies including surgical resection, radio- and chemotherapy (Bush et al., 2017).
Evolution The lower-grade gliomas can evolve towards higher-grade ones.
Prognosis Except for pilocytic astrocytomas ID: 5773>, the median survival of glioma patients is still poor (12-14 months). The 5-years survival of GBM patients is <10%, with a final mortality rate of close to 100% (Roy et al., 2015).


Note Here, we reported the most karyotype abnormalities associated with familial gliomas found in literature (Table 8)
 Sex (age at diagnosis)RelationshipKaryotype abnormalitiesNote
Duhaime et al. (1989)1) Female (2,5)
2) Male (5)
Siblings. Patient 1: The stem line karyotype of the tumor showed translocation t(11;14) and was often seen in a tetraploid version of the basic karyotype (48, XX, -14, +der(11)t(11;14) (p11.2-3;q11), +marker, +marker). Chromosomes from peripheral blood lymphocytes were normal
Patient 2: tumor contained normal 46, XY cell as well as cells with both numerical and structural abnormalities, even if a consistent stem line could not be discerned.
Both patients presented GBM.
Family history showed no genetic syndromes or cancers.
Authors suggested some possible agents in environment to which the siblings were exposed, causing the formation of their tumors.
Arruda et al. (1995)1) Female (7)Fourth proband generation. Sister of two brothers. One of these two brothers died by brain tumor.Tumor karyotype: 46, XX, 7q-/ 46 ,XX ,-2 ,4p- ,7p- ,+15 / 46, XX
Peripheral blood lymphocytes were normal: 46, XX.
Patient presented GBM.
Patient was in a family with several members having GBM or other malignant tumors in other areas (breast, larynx and colon). 
Dirven et al. (1995)1) Male (22)
2) Female (29)
3) Female (33)
4) Female (41)
Siblings.Kayotypes from peripheral blood lymphocytes for all patients were normal.
Patient 4 showed mutations in codon 220 (T-->G; exon 6) and in codon 273 (C-->T; exon 8) of TP53 in tumor cells.
Patients 1 and 2 presented glioma.
Patients 3 and 4 presented GBM.
No other family members in three generations were affected by malignant brain tumors.
Patel et al. (1998)1) Male (6)
2) Male (13)
3) Male (73)
Patient 3 is the granduncle of patient 1.
Patient 3 is the grandfather of patient 2
CNAs from tumor specimens:
Patient 1: No detectable abnormality.
Patient 2: -Y.
Patient 3: +7q, -10, -13q(21-->33), -21.
Patient 1 presented an anaplastic astrocytoma.
Patient 2 presented an astrocytoma.
Patient 3 presented GBM.
In the family, there were other three cases of GBM and of other brain tumors.
4) Female (25)
5) Male (52)
Patient 5 is the paternal uncle of patient 4.CNAs from tumor specimens:
Patient 4:  -1p, +3q(13.3-->9), -4q, +12, -15, -19q, -X
Patient 5: ++7p(11.1-->12), +19.
Patient 4 presented anaplastic oligodendroglioma.
Patient 5 presented GBM.
6) Male (44)
7) Male (77)
Patient 7 is the paternal uncle of patient 6.CNAs from tumor specimens:
Patient 6: +7, -10, +12p, ++12p(11-->12), ++12q(13.2-->14), -13q(21-->33).
Patient 7: ++7p(11.21), ++7p(11.1-->12), ++(21.233), -9q34, -10, -16p, -19, -22.
Both patients presented GBM.
8) Male (68)Patient has one first cousin with GBM and one with an astrocytoma.CNAs from tumor specimen:
Patient 8: +7, -10, 18.
Patient presented GBM.
Ugonabo et al. (2011)1) Male (63)
2) Male (81)
Brothers.Tumor karyotype of patient 2 revealed trisomies of 4, 8, 12, 22 and LOH of 1p, 9p, and 10.Both patients presented GBM.
Chromosomal abnormalities not found in all tumor cells.
Osorio et al. (2014)1) Male (17)
2) Male (21)
Brothers.Tumor karyotype: Both patients had 1p and 19q deleted.Both patients presented oligodendroglioma.
3) Male (55)
4) Male (59)
Brothers.Tumor karyotype of patient 3 showed 1p and 19q deleted.
Tumor karyotype of patient 4 showed 1p/19q intact.
Patient 3 presented anaplastic oligodendroglioma
Patient 4 presented GBM w/oligo features.

Table 8 | Summary of karyotype abnormalities associated with familial gliomas found in literature. = copy number alterations

Genes involved and Proteins

Note Many SNPs could be associated with the risk of glioma at 5p15.33 ( TERT), 7p11.2 ( EGFR), 8q24.21 ( CCDC26), 9p21.3 (CDKN2A/ CDKN2B), 11q23.3 (PHLDB1) and 20q13.33 (RTEL1), mutations in POT1 gene, MYO19 and KIF18B genes and rare variants in SPAG9 and RUNDC1 genes could be associated with the risk of glioma. PTEN, TP53, CDKN2A, and CDK4 are not common events in familial glioma.


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Alifieris C, Trafalis DT.
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PMID 25482530
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This paper should be referenced as such :
Bazzoni R., Bentivegna A
Familial glioma;
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