
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00230992 |
- |
- |
- |
F |
no |
Brazil |
- |
- |
- |
- |
- |
XP |
The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure. |
ERCC5 |
ERCC5 |
2 |
1 |
Tiago de Souza |
00230993 |
- |
- |
- |
M |
no |
Brazil |
- |
- |
- |
- |
- |
XP |
The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed. |
ERCC5 |
ERCC5 |
2 |
1 |
Tiago de Souza |
00306118 |
PatXP202DC |
Imoto 2007, J Invest Dermatol 127 Supp. Abs547 |
2-generation family, 1 affected, unaffected heterozygous carrier parents |
F |
- |
Japan |
- |
37y |
- |
- |
- |
XP |
progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y |
ERCC1 |
ERCC1 |
2 |
1 |
Johan den Dunnen |
00306174 |
PatXP126LO |
PubMed: Sijbers 1996, PubMed: Norris 1988 |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
XP |
- |
ERCC4 |
ERCC4 |
4 |
1 |
Johan den Dunnen |
00306175 |
PatXP42RO |
PubMed: Sijbers 1998 |
2-generation family, 2 affected sibs, unaffected heterozygous carrier parents |
M |
- |
Netherlands |
white |
- |
- |
- |
- |
XP |
see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy |
ERCC4 |
ERCC4 |
1 |
2 |
Johan den Dunnen |
00306177 |
PatXP26BR |
PubMed: Ahmad 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
XP |
- |
ERCC4 |
ERCC4 |
1 |
1 |
Johan den Dunnen |
00306178 |
PatXP32BR |
PubMed: Ahmad 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
XP |
- |
ERCC4 |
ERCC4 |
2 |
1 |
Johan den Dunnen |
00306179 |
PatAS871 |
PubMed: Ahmad 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
XP |
severe XP with neurodegeneratio |
ERCC4 |
ERCC4 |
2 |
1 |
Johan den Dunnen |
00306180 |
PatXP62RO |
PubMed: Ahmad 2010 |
sib of XP42RO |
- |
- |
- |
- |
- |
- |
- |
- |
XP |
mild XP, late onset neurodegeneration |
ERCC4 |
ERCC4 |
1 |
1 |
Johan den Dunnen |
00306181 |
PatXP24KY |
PubMed: Matsumura 1998 |
- |
F |
- |
Japan |
- |
- |
- |
- |
- |
XP |
see paper; ... |
ERCC4 |
ERCC4 |
1 |
1 |
Johan den Dunnen |
00306182 |
PatXP24BR |
PubMed: Berneburg 2000,PubMed: Ahmad 2010 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
XP |
severe XP, neurodegeneration, no skin cancer |
ERCC4 |
ERCC4 |
2 |
1 |
Johan den Dunnen |
00436190 |
XP111BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 3-5; unscheduled DNA synthesis 3 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436191 |
XP54PV |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; 8y-first cancer, squamous cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4-5; |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436192 |
XP57BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 4; unscheduled DNA synthesis 1 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436193 |
XP80BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Somalia |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436194 |
XP81BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Somalia |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 5 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436195 |
XP15BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 0 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436196 |
XP114BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 5; unscheduled DNA synthesis 8 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436197 |
XP20BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 8; unscheduled DNA synthesis 8 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436198 |
XP9BI |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436199 |
XP103BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 20 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436200 |
XP53BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 3 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436201 |
XP116BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
India |
- |
- |
- |
- |
XP |
sunburn severity score 1; 30y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 12 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436202 |
XP2PR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436203 |
XP89BR-S |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436204 |
XP1PR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436205 |
XP88BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436206 |
XP89BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 5 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436207 |
XP1CB |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
India |
- |
- |
- |
- |
XP |
sunburn severity score 0; 46y-first cancer, melanoma in situ; 10 malignant melanomas; 35 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 13 |
XPA |
XPA |
1 |
1 |
Johan den Dunnen |
00436208 |
XP84BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 1; unscheduled DNA synthesis 14 |
ERCC3 |
ERCC3 |
1 |
1 |
Johan den Dunnen |
00436209 |
XP1SA |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
mixed |
55y |
- |
- |
- |
XP |
sunburn severity score 2; 22y-first cancer, malignant melanoma; 1 malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 21 |
ERCC3 |
ERCC3 |
2 |
1 |
Johan den Dunnen |
00436210 |
XP117BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436211 |
XP93BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436212 |
XP66TU |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 3y-first cancer, squamous cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 20 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436213 |
XP112BR-S |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436214 |
XP102BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 14 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436215 |
XP112BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436216 |
XP4LE |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; 6y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 5 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436217 |
XP73BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 1; unscheduled DNA synthesis 7 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436218 |
XP94BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Sri Lanka |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 11 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436219 |
XP82BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436220 |
XP76BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 10 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436221 |
XP78BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 28 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436222 |
XP3LE |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 15 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436223 |
XP77BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; 8y-first cancer, basal cell carcinoma; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 10 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436224 |
XP58BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436225 |
XP83BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 21 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436226 |
XP62BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 6 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436227 |
XP39BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 12 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436228 |
XP35BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 0; unscheduled DNA synthesis 13 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436229 |
XP28BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Bangladesh |
- |
- |
- |
- |
XP |
sunburn severity score 0; 8y-first cancer, basal cell carcinoma; no malignant melanoma; 8 nonmelanoma skin cancers; ocular severity score 9; neuro severity score 0; unscheduled DNA synthesis 12 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436230 |
XP51BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Middle East |
- |
- |
- |
- |
XP |
sunburn severity score 0; 12y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 1 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436231 |
XP6B1 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 0; 22y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 13 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436232 |
XP1SH |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 3y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 6 |
XPC |
XPC |
2 |
1 |
Johan den Dunnen |
00436233 |
XP22BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Middle East |
- |
- |
- |
- |
XP |
sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 13 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436234 |
XP21BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Middle East |
39y |
- |
- |
- |
XP |
sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436235 |
XP95BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 20y-first cancer, malignant melanoma; 9 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 27 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436236 |
XP107BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 28y-first cancer, melanoma in situ; 4 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 41 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436237 |
XP29BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Asia |
- |
- |
- |
- |
XP |
sunburn severity score 0; 57y-first cancer, basal cell carcinoma; 3 malignant melanomas; 1 nonmelanoma skin cancer; ocular severity score 2; neuro severity score 1; unscheduled DNA synthesis 33 |
XPC |
XPC |
1 |
1 |
Johan den Dunnen |
00436238 |
XP109BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 32 |
ERCC2 |
ERCC2 |
3 |
1 |
Johan den Dunnen |
00436239 |
XP87BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 23 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436240 |
XP70BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 10y-first cancer, squamous cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 4; neuro severity score 6; unscheduled DNA synthesis 10 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436241 |
XP16BR24 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436242 |
XP71BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436243 |
XP17BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 21y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436244 |
XPJCLO |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 8; unscheduled DNA synthesis 19 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436245 |
XP135LO-S |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 13y-first cancer, basal cell carcinoma; no malignant melanoma; 22 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 |
ERCC2 |
ERCC2 |
1 |
1 |
Johan den Dunnen |
00436246 |
XP135LO |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 12y-first cancer, basal cell carcinoma; 1 malignant melanoma; 50 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25 |
ERCC2 |
ERCC2 |
1 |
1 |
Johan den Dunnen |
00436247 |
XP104LO |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436248 |
XP59BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; 36y-first cancer, basal cell carcinoma; 5 malignant melanomas; 23 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 3; unscheduled DNA synthesis 24 |
ERCC2 |
ERCC2 |
3 |
1 |
Johan den Dunnen |
00436249 |
XP67BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75 |
ERCC2 |
ERCC2 |
3 |
1 |
Johan den Dunnen |
00436250 |
XP30BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
mixed |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436251 |
XP97BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
China; Han |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 53 |
ERCC2 |
ERCC2 |
2 |
1 |
Johan den Dunnen |
00436252 |
XP115BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 63 |
DDB2 |
DDB2 |
1 |
1 |
Johan den Dunnen |
00436253 |
XP105BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75 |
DDB2 |
DDB2 |
2 |
1 |
Johan den Dunnen |
00436254 |
XP98BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68 |
DDB2 |
DDB2 |
1 |
1 |
Johan den Dunnen |
00436255 |
XP100BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 9y-first cancer, basal cell carcinoma; no malignant melanoma; >100 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 53 |
DDB2 |
DDB2 |
1 |
1 |
Johan den Dunnen |
00436256 |
XP72BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 36 |
ERCC4 |
ERCC4 |
1 |
1 |
Johan den Dunnen |
00436257 |
XP32BR37 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 16 |
ERCC4 |
ERCC4 |
2 |
1 |
Johan den Dunnen |
00436258 |
XP24BR37 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 6; unscheduled DNA synthesis 4 |
ERCC4 |
ERCC4 |
2 |
1 |
Johan den Dunnen |
00436259 |
XP104BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Pakistan |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 0 |
ERCC5 |
ERCC5 |
1 |
1 |
Johan den Dunnen |
00436260 |
XP118BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 3 |
ERCC5 |
ERCC5 |
2 |
1 |
Johan den Dunnen |
00436261 |
XP55BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Somalia |
- |
- |
- |
- |
XP |
sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 |
ERCC5 |
ERCC5 |
1 |
1 |
Johan den Dunnen |
00436262 |
XP56BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Somalia |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1 |
ERCC5 |
ERCC5 |
1 |
1 |
Johan den Dunnen |
00436263 |
XP34BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 3 |
ERCC5 |
ERCC5 |
2 |
1 |
Johan den Dunnen |
00436264 |
XP120BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 4; |
ERCC5 |
ERCC5 |
2 |
1 |
Johan den Dunnen |
00436265 |
XP119BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 3; 20y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; |
ERCC5 |
ERCC5 |
2 |
1 |
Johan den Dunnen |
00436266 |
XP101BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 6; unscheduled DNA synthesis 14 |
ERCC5 |
ERCC5 |
1 |
1 |
Johan den Dunnen |
00436267 |
XP1NO |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 16y-first cancer, squamous cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 144 |
POLH |
POLH |
1 |
1 |
Johan den Dunnen |
00436268 |
XP5B1 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 111 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436269 |
XP1CH |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 22y-first cancer, melanoma in situ; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 99 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436270 |
XP110BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 23y-first cancer, malignant melanoma; 3 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 87 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436271 |
XP136LO |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 42y-first cancer, basal cell carcinoma; 12 malignant melanomas; 11 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 91 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436272 |
XP63BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 38y-first cancer, basal cell carcinoma; 15 malignant melanomas; >20 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 1; unscheduled DNA synthesis 130 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436273 |
XP64BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
mixed |
- |
- |
- |
- |
XP |
sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 144 |
POLH |
POLH |
1 |
1 |
Johan den Dunnen |
00436274 |
XP115LO25 |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
Middle East |
- |
- |
- |
- |
XP |
sunburn severity score 0; 21y-first cancer, squamous cell carcinoma; 17 malignant melanomas; 16 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 100 |
POLH |
POLH |
1 |
1 |
Johan den Dunnen |
00436275 |
XP85BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 44y-first cancer, basal cell carcinoma; no malignant melanoma; 120 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 90 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436276 |
XP36BR |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 33y-first cancer, malignant melanoma; 10 malignant melanomas; >10 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 99 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436277 |
XP36BR-S |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 0; 44y-first cancer, malignant melanoma; 13 malignant melanomas; 21 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 99 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |
00436278 |
XP6DU |
PubMed: Fassihi 2016 |
- |
- |
- |
United Kingdom (Great Britain) |
white |
- |
- |
- |
- |
XP |
sunburn severity score 1; 39y-first cancer, malignant melanoma; >8 malignant melanomas; >30 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 100 |
POLH |
POLH |
2 |
1 |
Johan den Dunnen |