Biology Reference
In-Depth Information
TABLE 12.6 DNA Repair and Radiotherapy Response
Cancer type
Repair enzyme
Results
Reference
H&N
XPF/ERCC1
SNP at codon 259 significant predictor of progression and
survival
236
H&N
XPG/ERCC5
Polymorphisms at codon 6 significant predictor of progression
and survival
236
Breast
ATM
Polymorphisms IVS22-77 T
G associated
with radioprotection when present in heterozygous state
C and IVS48
þ
238 C
239
>
>
Breast
ATM
G5557A variant in homozygous state associated with enhanced
radiosensitivity
239
Breast
ATM
No association with radiosensitivity of polymorphisms IVS22-77
T.C, IVS48
240 e 243
þ
238 C
G or G5557A
>
Breast
APE1
148Glu allele
risk of acute skin reactions
244
Y
Breast
XRCC1
399Gln allele
risk of acute skin reactions
244
Y
Breast
XRCC1
Arg194Trp and Arg399Gln polymorphism associated with RT
sensitivity
245
Various
XRCC1, XRCC3
Association between MSI and radiation sensitivity
246
Breast
XRCC3
Thr241Met e no association with acute skin toxicity
247
Breast
XRCC2
Arg188His e no association with acute skin toxicity
247
Breast
XRCC3
Thr/Thr genotype at codon 241 correlated with
[
risk of
248
subcutaneous fibrosis and telangiectasia
Breast
XRCC1
Arg/Arg genotype at codon 399 correlated with
[
risk of
248
subcutaneous fibrosis
Breast
XRCC1
No association with polymorphisms in codons 194, 280 and 399
and subcutaneous fibrosis
242
Breast
XRCC3
No association with polymorphisms in codon 241 and
subcutaneous fibrosis or change in breast appearance post-RT
241, 242
Breast
ATM
No association with polymorphisms in codon 1853 and
subcutaneous fibrosis or change in breast appearance post-RT
241, 242
Breast
APE1
No association with polymorphisms in codon 148 and
subcutaneous fibrosis or change in breast appearance post-RT
241, 242
Breast
XRCC1
No association with polymorphisms in codon 399 and change in
breast appearance post-RT
241
Breast
BRCA1 and 2
No association between acute or late effects and mutations
250
Breast
XRCC3, MSH2, MSH3
XRCC3-241 Met, MSH2 gIVS12-6nt-C & MSH3-1045Ala variant
allele carriage associated with
251
radiosensitivity
[
Breast
XRCC1
-77TC and CC genotypes associated with
risk of
grade 2 acute
252
[
skin reaction
Prostate
ERCC2, LIG4
ERCC2 Asp711Asp & LIG4 Asp568Asp polymorphisms
associated with late bladder and rectal toxicity
240
Cervix, endometrium
XRCC3
IVS5-14 polymorphic allele associated with risk of late RT
reaction
254
Cervix, endometrium
XRCC1
Codon 194 variant protective against RT
254
þ
Lung
XPD
Lys/Gln
Gln/Gln genotypes of Lys751Gln associated with
Y
255
risk of radiation-induced esophageal toxicity
Nasopharynx
XRCC1
G28152A codon 399 Arg/Gln polymorphism associated with
lower grade fibrosis than wild-type allele
256
Abbreviations: H&N, head and neck; RT, radiotherapy; MSI, microsatellite instability;
[
increased;
Y
decreased.
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