FCTCS
MCID: CTN028
MIFTS: 70

Cutaneous Telangiectasia and Cancer Syndrome, Familial (FCTCS)

Categories: Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cutaneous Telangiectasia and Cancer Syndrome, Familial

MalaCards integrated aliases for Cutaneous Telangiectasia and Cancer Syndrome, Familial:

Name: Cutaneous Telangiectasia and Cancer Syndrome, Familial 57 72 29 13 6 70
Telangiectasia, Cutaneous, and Cancer Syndrome, Familial 57 39
Fctcs 57 72
Familial Cutaneous Telangiectasia and Oropharyngeal Cancer Predisposition Syndrome 58
Neoplastic Syndromes, Hereditary 44

Characteristics:

Orphanet epidemiological data:

58
familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cutaneous telangiectasia and cancer syndrome, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 614564
Orphanet 58 ORPHA313846
MedGen 41 C3281203
UMLS 70 C3281203

Summaries for Cutaneous Telangiectasia and Cancer Syndrome, Familial

UniProtKB/Swiss-Prot : 72 Cutaneous telangiectasia and cancer syndrome, familial: A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well.

MalaCards based summary : Cutaneous Telangiectasia and Cancer Syndrome, Familial, also known as telangiectasia, cutaneous, and cancer syndrome, familial, is related to b-lymphoblastic leukemia/lymphoma with hyperdiploidy and fallopian tube clear cell adenocarcinoma. An important gene associated with Cutaneous Telangiectasia and Cancer Syndrome, Familial is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and Gene Expression. The drugs Bevacizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include breast, prostate and thyroid, and related phenotypes are convex nasal ridge and breast carcinoma

OMIM® : 57 Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012). (614564) (Updated 20-May-2021)

Related Diseases for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Diseases related to Cutaneous Telangiectasia and Cancer Syndrome, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.6 BRCA2 BRCA1 APC
2 fallopian tube clear cell adenocarcinoma 10.6 BRCA2 BRCA1
3 ruvalcaba syndrome 10.6 BRCA2 BRCA1 BMPR1A
4 synchronous bilateral breast carcinoma 10.6 BRCA2 BRCA1 ATM
5 mediastinum liposarcoma 10.6 CDKN2A ATM
6 cervical adenoma malignum 10.6 CHEK2 BRCA2 BRCA1 ATM
7 dysplastic nevus syndrome 10.6 CDKN2A BRCA2 BRCA1 ATM
8 peritoneum cancer 10.6 CDKN2A BRCA2 BRCA1 BAP1
9 tracheoesophageal fistula with or without esophageal atresia 10.6 FANCC BRIP1 BRCA2 AOPEP
10 wilms tumor predisposition 10.6 DICER1 BRCA2 BLM
11 ovary transitional cell carcinoma 10.6 BRCA2 BRCA1
12 adenoma 10.6 CDKN2A CDH1 AXIN2 APC AIP
13 t-cell prolymphocytic leukemia 10.6 CHEK2 CDKN1B C11orf65 ATM
14 lobular neoplasia 10.6 CDH1 BRCA2 BRCA1
15 fanconi anemia, complementation group d1 10.6 FANCC BRIP1 BRCA2 BRCA1
16 autosomal recessive cerebellar ataxia 10.6 CHEK2 BRCA1 ATR ATM
17 fallopian tube carcinoma 10.6 CDKN1B BRCA2 BRCA1 BARD1
18 nijmegen breakage syndrome 10.6 CHEK2 BRCA1 BLM ATR ATM
19 fanconi anemia, complementation group j 10.6 FANCC BRIP1 BRCA2 BRCA1
20 colonic benign neoplasm 10.6 CDH1 AXIN2 APC
21 thoracic benign neoplasm 10.6 CDH1 BRCA2 BRCA1
22 fanconi anemia, complementation group n 10.6 FANCC BRIP1 BRCA2
23 breast benign neoplasm 10.6 CDH1 BRCA2 BRCA1
24 familial colorectal cancer 10.6 CHEK2 CDH1 BRCA2 BLM APC
25 malignant peritoneal mesothelioma 10.6 CDKN2A BAP1
26 basaloid lung carcinoma 10.6 BRCA2 BRCA1
27 retinal cancer 10.6 CDKN2A CDKN1B ATM APC
28 colorectal adenocarcinoma 10.6 CDKN2A CDH1 ATM APC
29 cerebellar disease 10.6 CHEK2 BRCA2 BRCA1 ATR ATM
30 cancerophobia 10.6 BRCA2 BRCA1
31 ovary adenocarcinoma 10.6 CDKN2A CDH1 BRCA2 BRCA1
32 epstein-barr virus-associated gastric carcinoma 10.6 CDKN2A CDH1
33 bloom syndrome 10.6 FANCC BRCA2 BRCA1 BLM ATM
34 pre-malignant neoplasm 10.6 CDKN2A CDH1 BRCA2 BRCA1
35 nosophobia 10.6 BRCA2 BRCA1
36 diffuse midline glioma, h3 k27m-mutant 10.6 CHEK2 BRIP1 BRCA2
37 vulvar intraepithelial neoplasia 10.6 CDKN2A CDH1
38 telangiectasis 10.6 CHEK2 BMPR1A ATM
39 in situ carcinoma 10.6 CDKN2A CDH1 BRCA2 BRCA1
40 malignant ovarian surface epithelial-stromal neoplasm 10.6 CDKN2A CDH1 BRCA2 BRCA1 APC
41 cell type benign neoplasm 10.6 CDKN2A CDH1 APC AIP
42 ovarian cystadenocarcinoma 10.6 CDKN2A BRCA2 BRCA1
43 ovary epithelial cancer 10.6 CDKN2A CDH1 BRCA2 BRCA1 APC
44 uterine corpus cancer 10.6 CDKN2A BRCA2 BRCA1
45 tetraploidy 10.5 BRCA2 BRCA1
46 seckel syndrome 10.5 CHEK2 BRCA2 BRCA1 ATR ATM
47 ductal carcinoma in situ 10.5 CDKN2A CDH1 BRCA2 BRCA1
48 papillary adenocarcinoma 10.5 CDH1 BRCA2 BRCA1
49 b-lymphoblastic leukemia/lymphoma with t 10.5 BMPR1A APC
50 tonsil cancer 10.5 CDKN2A CDKN1B CDH1

Graphical network of the top 20 diseases related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:



Diseases related to Cutaneous Telangiectasia and Cancer Syndrome, Familial

Symptoms & Phenotypes for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Human phenotypes related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 convex nasal ridge 31 occasional (7.5%) HP:0000444
2 breast carcinoma 31 occasional (7.5%) HP:0003002
3 ridged nail 31 occasional (7.5%) HP:0001807
4 carious teeth 31 HP:0000670
5 alopecia 31 HP:0001596
6 telangiectasia 31 HP:0001009
7 hypoplasia of dental enamel 31 HP:0006297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
thinning of lateral eyebrows

Head And Neck Nose:
beaked nose (in some patients)

Neoplasia:
oropharyngeal cancer
nonmelanoma skin cancer (in some patients)
breast cancer (rare)
cervical cancer (rare)

Skin Nails Hair Skin:
telangiectases in both sun-exposed and sun-protected areas
nonmelanoma skin cancer (in some patients)

Skin Nails Hair Hair:
thinning of lateral eyebrows
alopecia, patchy, over areas of prominent telangiectases

Head And Neck Mouth:
oropharyngeal cancer

Head And Neck Teeth:
thin dental enamel of both primary and secondary dentition
dental caries of both primary and secondary dentition
loss of multiple teeth
misshapen incisors (in some patients)

Skin Nails Hair Nails:
longitudinal ridging (in some patients)

Clinical features from OMIM®:

614564 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cutaneous Telangiectasia and Cancer Syndrome, Familial according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.85 BMPR1A CDH1 CDKN1B CDKN2A
2 Decreased viability GR00221-A-2 10.85 BMPR1A BRCA1 CHEK2
3 Decreased viability GR00221-A-3 10.85 ATM BMPR1A BRCA1 CDKN2A CHEK2
4 Decreased viability GR00221-A-4 10.85 ATM BMPR1A CDKN2A CHEK2
5 Decreased viability GR00240-S-1 10.85 AIP
6 Decreased viability GR00249-S 10.85 APC ATR BARD1 BMPR1A BRCA2 FANCC
7 Decreased viability GR00301-A 10.85 ATR BRCA1 CDH1
8 Decreased viability GR00342-S-2 10.85 CHEK2
9 Decreased viability GR00381-A-1 10.85 C11orf65
10 Decreased viability GR00386-A-1 10.85 BLM BRIP1
11 Decreased viability GR00402-S-2 10.85 CDH1 FANCC
12 Decreased homologous recombination repair frequency GR00151-A-1 10.32 BARD1 BRCA1
13 Decreased homologous recombination repair frequency GR00151-A-2 10.32 BRCA1
14 Decreased homologous recombination repair frequency GR00236-A-1 10.32 BARD1 BRCA1 BRCA2
15 Decreased homologous recombination repair frequency GR00236-A-2 10.32 ATR BARD1 BRCA1 BRCA2
16 Decreased homologous recombination repair frequency GR00236-A-3 10.32 ATR BARD1 BRCA1 BRCA2
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.25 ATR BARD1 BRCA1 BRCA2 CDKN2A
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.25 ATM ATR BLM BRCA1 BRCA2 CDKN2A
19 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.25 ATM ATR BARD1 BLM BRCA1 BRCA2
20 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 10.21 ATM BARD1 BLM CHEK2
21 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 10.21 ATM ATR BARD1 BLM BRCA1 BRIP1
22 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 ATM BARD1 BLM BRCA1 BRCA2 BRIP1
23 Decreased viability with cisplatin GR00101-A-4 9.77 ATR BARD1 BRCA1 BRCA2 BRIP1
24 Increased ionizing radiation sensitivity GR00232-A-1 9.72 ATM BARD1 BRCA1 BRCA2 CDH1
25 Decreased viability after gemcitabine stimulation GR00107-A-2 9.61 ATM ATR CDKN2A
26 Decreased viability after ionizing radiation GR00232-A-2 9.58 ATM BRCA1 BRCA2
27 Synthetic lethal with cisplatin GR00101-A-1 9.55 ATR BARD1 BRCA1 BRCA2 BRIP1
28 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC AXIN2 BARD1 BRCA1 BRCA2

MGI Mouse Phenotypes related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.54 AIP APC ATM ATR AXIN2 BAP1
2 endocrine/exocrine gland MP:0005379 10.49 AIP APC ATM ATR AXIN2 BAP1
3 cardiovascular system MP:0005385 10.44 AIP APC ATM ATR AXIN2 BAP1
4 embryo MP:0005380 10.44 AIP APC ATM ATR AXIN2 BAP1
5 growth/size/body region MP:0005378 10.42 AIP APC ATM ATR AXIN2 BAP1
6 homeostasis/metabolism MP:0005376 10.4 AIP APC ATM ATR BAP1 BARD1
7 integument MP:0010771 10.37 AIP APC ATM ATR AXIN2 BAP1
8 immune system MP:0005387 10.36 APC ATM ATR BAP1 BLM BMPR1A
9 hematopoietic system MP:0005397 10.35 APC ATM ATR BAP1 BLM BMPR1A
10 mortality/aging MP:0010768 10.34 AIP APC ATM ATR AXIN2 BAP1
11 neoplasm MP:0002006 10.31 AIP APC ATM ATR BAP1 BARD1
12 digestive/alimentary MP:0005381 10.23 APC ATR BAP1 BMPR1A BRCA1 BRCA2
13 nervous system MP:0003631 10.18 APC ATM ATR AXIN2 BARD1 BMPR1A
14 liver/biliary system MP:0005370 10.06 AIP APC ATR BRIP1 CDKN1B CDKN2A
15 limbs/digits/tail MP:0005371 10.02 APC AXIN2 BMPR1A BRCA1 BRCA2 BRIP1
16 normal MP:0002873 10 AOPEP APC ATR AXIN2 BARD1 BLM
17 no phenotypic analysis MP:0003012 9.87 AXIN2 BAP1 BLM CDH1 CDKN1B CDKN2A
18 reproductive system MP:0005389 9.86 APC ATM ATR AXIN2 BAP1 BARD1
19 pigmentation MP:0001186 9.7 APC ATR BMPR1A BRCA1 BRIP1 CDKN1B
20 skeleton MP:0005390 9.32 APC ATR AXIN2 BMPR1A BRCA1 BRCA2

Drugs & Therapeutics for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Drugs for Cutaneous Telangiectasia and Cancer Syndrome, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2 Angiogenesis Inhibitors Phase 2
3 Antineoplastic Agents, Immunological Phase 2
4
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
5 Protein Kinase Inhibitors Phase 2
6 Pharmaceutical Solutions

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer Active, not recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
2 Familial Prostate Cancer Completed NCT00001377
3 Genetic Analysis of Inherited Urologic Malignant Disorders: Collection of Samples Completed NCT00001814
4 Biomarker Monitoring for a Young Individual Carrying a TP53 Gene Mutation in a Familial High-Cancer Predisposition Setting Completed NCT02289326
5 Microarray Analysis for Human Genetic Disease Completed NCT00001898
6 Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast Cancer Completed NCT00001496
7 A Prospective Evaluation of the Impact of a Process Engineering Intervention on Screening and Testing Outcomes for Common Hereditary Cancer Syndromes in Community-Based Obstetrics and Gynecology Settings Completed NCT03081455
8 European Regulatory Science on Tobacco: Policy Implementation to Reduce Lung Diseases (EUREST-PLUS) Completed NCT02773836
9 Early Detection of Cancer in High-risk Patients Through Cell-free DNA Recruiting NCT04261972
10 Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes Recruiting NCT04731857
11 Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disease Recruiting NCT00026884
12 Li-Fraumeni & TP53: Understanding and Progress (LiFT UP) Recruiting NCT04541654
13 Approaches to Identify and Care for Individuals With Inherited Cancer Syndromes Recruiting NCT04494945
14 Development and Implementation of Electronic Decision Aids for Genetic Testing in Inherited Cancer Syndromes Recruiting NCT04704193
15 Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions Recruiting NCT03160274
16 Exome Sequencing in Diverse Populations in Colorado & Oregon Active, not recruiting NCT03426878
17 Integrative Sequencing In Germline and Hereditary Tumours Active, not recruiting NCT03857594
18 InheRET: A Software-as-a-Service (SaaS) Solution to Identifying Patients at Increased Risk for Hereditary Disease Enrolling by invitation NCT04510896
19 Improving Care After Inherited Cancer Testing (IMPACT) Study Not yet recruiting NCT04763915
20 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450
21 Evaluation of the Adhesion to the Network of Care of People at Genetic Risk of Cancer in Midi-Pyrénées (GENEPY) Not yet recruiting NCT03979612

Search NIH Clinical Center for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Cochrane evidence based reviews: neoplastic syndromes, hereditary

Genetic Tests for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Genetic tests related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:

# Genetic test Affiliating Genes
1 Cutaneous Telangiectasia and Cancer Syndrome, Familial 29 ATR

Anatomical Context for Cutaneous Telangiectasia and Cancer Syndrome, Familial

MalaCards organs/tissues related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:

40
Breast, Prostate, Thyroid, Colon, Pituitary, Eye, Ovary

Publications for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Articles related to Cutaneous Telangiectasia and Cancer Syndrome, Familial:

(show top 50) (show all 4906)
# Title Authors PMID Year
1
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 57 6
22341969 2012
2
Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer. 6
32809219 2020
3
Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays. 6
32546644 2020
4
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer. 6
32782288 2020
5
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2. 6
32398771 2020
6
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. 6
31558676 2020
7
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. 6
30858171 2020
8
A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer. 6
32041497 2020
9
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. 6
31965077 2020
10
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases. 6
32359370 2020
11
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome. 6
32438681 2020
12
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer. 6
32125938 2020
13
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. 6
31214711 2020
14
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort. 6
31853058 2020
15
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL. 6
31916644 2020
16
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls. 6
32300229 2020
17
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants. 6
32113160 2020
18
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. 6
31825140 2020
19
Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. 6
31746132 2020
20
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer. 6
32183364 2020
21
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. 6
31492822 2020
22
MSH6 immunohistochemical heterogeneity in colorectal cancer: comparative sequencing from different tumor areas. 6
31783044 2020
23
Integration of Comprehensive Genomic Analysis and Functional Screening of Affected Molecular Pathways to Inform Cancer Therapy. 6
31685261 2020
24
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer. 6
32075053 2020
25
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population. 6
32039725 2020
26
Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. 6
31076742 2020
27
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients. 6
31768816 2020
28
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. 6
31871109 2020
29
Clinical Evaluation of BRCA1/2 Mutation in Mexican Ovarian Cancer Patients. 6
31869745 2020
30
Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients. 6
31786208 2020
31
Clinicopathologic features and genetic characteristics of the BRCA1/2 mutation in Turkish breast cancer patients. 6
31706072 2020
32
Correction: Novel Insight into Mutational Landscape of Head and Neck Squamous Cell Carcinoma. 6
32401780 2020
33
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients. 6
31524643 2020
34
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene. 6
31300551 2020
35
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. 6
31444830 2020
36
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. 6
31595648 2020
37
The spectrum of mutations predisposing to familial breast cancer in Poland. 6
31173646 2019
38
Characterization of splice-altering mutations in inherited predisposition to cancer. 6
31843900 2019
39
Combined Tumor Sequencing and Case-Control Analyses of RAD51C in Breast Cancer. 6
30949688 2019
40
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. 6
31343793 2019
41
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update. 6
31942411 2019
42
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. 6
31209999 2019
43
BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group. 6
31411802 2019
44
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain). 6
31771539 2019
45
The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population. 6
31451522 2019
46
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. 6
31766501 2019
47
Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer. 6
31815095 2019
48
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells. 6
31237724 2019
49
A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant. 6
31687641 2019
50
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients. 6
30927251 2019

Variations for Cutaneous Telangiectasia and Cancer Syndrome, Familial

ClinVar genetic disease variations for Cutaneous Telangiectasia and Cancer Syndrome, Familial:

6 (show top 50) (show all 67860)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV Pathogenic/Likely pathogenic, risk factor 822 rs1801155 GRCh37: 5:112175211-112175211
GRCh38: 5:112839514-112839514
2 MSH6 NM_000179.3(MSH6):c.2662A>T (p.Lys888Ter) SNV Pathogenic 821595 rs1572728039 GRCh37: 2:48027784-48027784
GRCh38: 2:47800645-47800645
3 MSH3 NM_002439.5(MSH3):c.2664_2665AG[3] (p.Arg890fs) Microsatellite Pathogenic 821653 rs1561486632 GRCh37: 5:80109411-80109412
GRCh38: 5:80813592-80813593
4 NF1 NM_000267.3(NF1):c.2734C>T (p.Gln912Ter) SNV Pathogenic 654419 rs1597715673 GRCh37: 17:29556367-29556367
GRCh38: 17:31229349-31229349
5 MSH6 NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter) SNV Pathogenic 821737 rs1572728472 GRCh37: 2:48027858-48027858
GRCh38: 2:47800719-47800719
6 TP53 NM_000546.6(TP53):c.277_278del (p.Leu93fs) Deletion Pathogenic 821781 rs1597374098 GRCh37: 17:7579409-7579410
GRCh38: 17:7676091-7676092
7 MSH6 NM_000179.3(MSH6):c.2811T>G (p.Tyr937Ter) SNV Pathogenic 821839 rs1572728785 GRCh37: 2:48027933-48027933
GRCh38: 2:47800794-47800794
8 PALB2 NM_024675.4(PALB2):c.2824A>T (p.Arg942Ter) SNV Pathogenic 821860 rs757055720 GRCh37: 16:23635340-23635340
GRCh38: 16:23624019-23624019
9 NF1 NM_000267.3(NF1):c.2827A>T (p.Lys943Ter) SNV Pathogenic 585292 rs1567849199 GRCh37: 17:29556460-29556460
GRCh38: 17:31229442-31229442
10 NF1 NM_001042492.3(NF1):c.2820_2826del (p.Ile941fs) Deletion Pathogenic 821855 rs1597715824 GRCh37: 17:29556452-29556458
GRCh38: 17:31229434-31229440
11 ATM NM_000051.4(ATM):c.286G>T (p.Glu96Ter) SNV Pathogenic 821876 rs1591452100 GRCh37: 11:108100005-108100005
GRCh38: 11:108229278-108229278
12 PTCH1 NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter) SNV Pathogenic 663028 rs1587693508 GRCh37: 9:98268800-98268800
GRCh38: 9:95506518-95506518
13 MSH6 NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs) Deletion Pathogenic 821883 rs1572728922 GRCh37: 2:48027966-48027967
GRCh38: 2:47800827-47800828
14 NF1 NM_001042492.3(NF1):c.2851-1G>T SNV Pathogenic 821889 rs1597716274 GRCh37: 17:29556852-29556852
GRCh38: 17:31229834-31229834
15 NF1 NM_001042492.3(NF1):c.284del (p.Ala95fs) Deletion Pathogenic 821902 rs1597629895 GRCh37: 17:29486107-29486107
GRCh38: 17:31159089-31159089
16 RAD51D , RAD51L3-RFFL NM_133629.3(RAD51D):c.145-944dup Duplication Pathogenic 821943 rs1597863362 GRCh37: 17:33434442-33434443
GRCh38: 17:35107423-35107424
17 MSH6 NM_000179.3(MSH6):c.2902dup (p.Val968fs) Duplication Pathogenic 821954 rs1572729161 GRCh37: 2:48028023-48028024
GRCh38: 2:47800884-47800885
18 MLH1 NM_000249.4(MLH1):c.290dup (p.Tyr97Ter) Duplication Pathogenic 821975 rs1575414904 GRCh37: 3:37042527-37042528
GRCh38: 3:37001036-37001037
19 PALB2 NM_024675.4(PALB2):c.100del (p.Arg34fs) Deletion Pathogenic 822000 rs1597101822 GRCh37: 16:23649399-23649399
GRCh38: 16:23638078-23638078
20 MSH6 NM_000179.3(MSH6):c.1010_1011dup (p.Arg338Ter) Duplication Pathogenic 822006 rs1572721251 GRCh37: 2:48026131-48026132
GRCh38: 2:47798992-47798993
21 MEN1 NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter) SNV Pathogenic 822013 rs1592643178 GRCh37: 11:64573738-64573738
GRCh38: 11:64806266-64806266
22 SMAD4 NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) SNV Pathogenic 822036 rs1599195400 GRCh37: 18:48591865-48591865
GRCh38: 18:51065495-51065495
23 STK11 NM_000455.5(STK11):c.291-1G>A SNV Pathogenic 821978 rs112675807 GRCh37: 19:1218415-1218415
GRCh38: 19:1218416-1218416
24 NBN NM_002485.5(NBN):c.1048G>T (p.Glu350Ter) SNV Pathogenic 822047 rs1586065938 GRCh37: 8:90971029-90971029
GRCh38: 8:89958801-89958801
25 ATM NM_000051.4(ATM):c.1056_1057del (p.Ile352fs) Deletion Pathogenic 822090 rs1591511511 GRCh37: 11:108117844-108117845
GRCh38: 11:108247117-108247118
26 MSH3 NM_002439.5(MSH3):c.1087dup (p.Thr363fs) Duplication Pathogenic 822099 rs1234762807 GRCh37: 5:79970860-79970861
GRCh38: 5:80675041-80675042
27 ATM NM_000051.4(ATM):c.1073dup (p.Asn358fs) Duplication Pathogenic 822123 rs1591517182 GRCh37: 11:108119665-108119666
GRCh38: 11:108248938-108248939
28 MSH6 NM_000179.3(MSH6):c.1093_1099dup (p.His367fs) Duplication Pathogenic 822148 rs1572721655 GRCh37: 2:48026214-48026215
GRCh38: 2:47799075-47799076
29 BMPR1A NM_004329.3(BMPR1A):c.1095del (p.Ser365fs) Deletion Pathogenic 822155 rs1589291774 GRCh37: 10:88679155-88679155
GRCh38: 10:86919398-86919398
30 MEN1 NM_001370259.2(MEN1):c.1100_1131del (p.Val367fs) Deletion Pathogenic 822170 rs1592640213 GRCh37: 11:64573161-64573192
GRCh38: 11:64805689-64805720
31 PALB2 NM_024675.4(PALB2):c.1103dup (p.Asn368fs) Duplication Pathogenic 822178 rs1555461451 GRCh37: 16:23646763-23646764
GRCh38: 16:23635442-23635443
32 CDH1 NM_004360.5(CDH1):c.1107del (p.Asn369fs) Deletion Pathogenic 578952 rs1567507138 GRCh37: 16:68846136-68846136
GRCh38: 16:68812233-68812233
33 PMS2 NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) Deletion Pathogenic 822197 rs1583334346 GRCh37: 7:6029463-6029464
GRCh38: 7:5989832-5989833
34 MRE11 NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs) Deletion Pathogenic 822199 rs1169667763 GRCh37: 11:94197377-94197392
GRCh38: 11:94464211-94464226
35 PALB2 NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter) SNV Pathogenic 822210 rs1597097072 GRCh37: 16:23646750-23646750
GRCh38: 16:23635429-23635429
36 ATM NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer) Deletion Pathogenic 822185 rs1591517456 GRCh37: 11:108119704-108119704
GRCh38: 11:108248977-108248977
37 NBN NM_002485.5(NBN):c.1146del (p.Glu383fs) Deletion Pathogenic 822251 rs1586059584 GRCh37: 8:90967762-90967762
GRCh38: 8:89955534-89955534
38 ATM , C11orf65 NM_000051.3(ATM):c.8319_8323dup (p.Pro2775fs) Duplication Pathogenic 407483 rs1555135596 GRCh37: 11:108213997-108213998
GRCh38: 11:108343270-108343271
39 MSH2 NM_000251.2(MSH2):c.832G>T (p.Glu278Ter) SNV Pathogenic 641057 rs1558464008 GRCh37: 2:47641447-47641447
GRCh38: 2:47414308-47414308
40 CDH1 NM_004360.5(CDH1):c.833-1G>A SNV Pathogenic 822311 rs1597893910 GRCh37: 16:68845586-68845586
GRCh38: 16:68811683-68811683
41 FANCC , AOPEP NM_000136.3(FANCC):c.836C>A (p.Ser279Ter) SNV Pathogenic 822352 rs1588134180 GRCh37: 9:97897635-97897635
GRCh38: 9:95135353-95135353
42 PTEN NM_000314.8(PTEN):c.839del (p.Ile280fs) Deletion Pathogenic 822382 rs1589665663 GRCh37: 10:89720688-89720688
GRCh38: 10:87960931-87960931
43 PALB2 NM_024675.4(PALB2):c.840del (p.Asn280fs) Deletion Pathogenic 822391 rs1597098094 GRCh37: 16:23647027-23647027
GRCh38: 16:23635706-23635706
44 ATM , C11orf65 NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) Deletion Pathogenic 822417 rs587782558 GRCh37: 11:108216477-108216478
GRCh38: 11:108345750-108345751
45 ATM , C11orf65 NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs) Insertion Pathogenic 822418 rs1591264194 GRCh37: 11:108216488-108216489
GRCh38: 11:108345761-108345762
46 MSH3 NM_002439.5(MSH3):c.296dup (p.Lys100fs) Duplication Pathogenic 822397 rs1580540688 GRCh37: 5:79952283-79952284
GRCh38: 5:80656464-80656465
47 NF1 NM_000267.3(NF1):c.2990G>A (p.Arg997Lys) SNV Pathogenic 654334 rs1555614462 GRCh37: 17:29556992-29556992
GRCh38: 17:31229974-31229974
48 MSH6 NM_000179.2(MSH6):c.2991del (p.Lys997fs) Deletion Pathogenic 410418 rs1060502890 GRCh37: 2:48028111-48028111
GRCh38: 2:47800972-47800972
49 ATM , C11orf65 NM_000051.4(ATM):c.8533del (p.Trp2845fs) Deletion Pathogenic 822541 rs1591265186 GRCh37: 11:108216582-108216582
GRCh38: 11:108345855-108345855
50 BAP1 NM_004656.4(BAP1):c.2T>C (p.Met1Thr) SNV Pathogenic 822547 rs1467015377 GRCh37: 3:52443893-52443893
GRCh38: 3:52409877-52409877

UniProtKB/Swiss-Prot genetic disease variations for Cutaneous Telangiectasia and Cancer Syndrome, Familial:

72
# Symbol AA change Variation ID SNP ID
1 ATR p.Gln2144Arg VAR_067919 rs387906797

Expression for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Search GEO for disease gene expression data for Cutaneous Telangiectasia and Cancer Syndrome, Familial.

Pathways for Cutaneous Telangiectasia and Cancer Syndrome, Familial

Pathways related to Cutaneous Telangiectasia and Cancer Syndrome, Familial according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 CHEK2 CDKN2A CDKN1B CDH1 BRCA1 BMPR1A
2
Show member pathways
13.79 FANCC DICER1 CHEK2 CDKN2A CDKN1B BRIP1
3
Show member pathways
13.43 CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
4
Show member pathways
13.22 FANCC CHEK2 BRIP1 BRCA2 BRCA1 BLM
5
Show member pathways
12.98 CDKN1B BRCA1 AXIN2 ATR ATM APC
6
Show member pathways
12.89 FANCC CHEK2 CDKN2A CDKN1B BRIP1 BRCA1
7
Show member pathways
12.88 CDKN2A CDKN1B AXIN2 APC AIP
8 12.84 CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
9
Show member pathways
12.82 BRCA1 BARD1 BAP1 AXIN2 APC
10
Show member pathways
12.79 CDKN2A CDKN1B CDH1 BRCA2 AXIN2 APC
11
Show member pathways
12.79 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 AXIN2
12
Show member pathways
12.72 FANCC CHEK2 CDKN1B BRCA2 BRCA1 BARD1
13
Show member pathways
12.69 CHEK2 BRIP1 BRCA2 BRCA1 BARD1 ATR
14
Show member pathways
12.67 CDKN2A CDKN1B CDH1 BRCA2 BRCA1 ATM
15
Show member pathways
12.65 CHEK2 CDKN1B BRIP1 BRCA1 BLM BARD1
16 12.55 DICER1 CDKN2A CDKN1B BRCA1 ATM APC
17
Show member pathways
12.51 BRCA2 BRCA1 BLM ATR ATM
18
Show member pathways
12.43 CHEK2 BMPR1A ATR ATM
19
Show member pathways
12.4 CHEK2 CDKN2A CDKN1B BRCA1 ATR ATM
20 12.4 CHEK2 CDKN2A CDKN1B CDH1 ATR ATM
21 12.38 CHEK2 CDKN2A CDKN1B BRIP1 BRCA2 BRCA1
22
Show member pathways
12.36 CHEK2 BRCA1 BARD1 BAP1 ATM
23
Show member pathways
12.34 CDKN2A CDKN1B ATR ATM
24 12.32 CHEK2 CDKN2A ATR ATM
25
Show member pathways
12.3 BRIP1 BRCA2 BRCA1 BLM BARD1 ATR
26
Show member pathways
12.24 CHEK2 BRCA1 ATR ATM
27
Show member pathways
12.19 BRIP1 BRCA2 BRCA1 BLM BARD1 ATM
28 12.16 CDH1 BMPR1A AXIN2 APC
29 12.14 CHEK2 CDKN2A ATR ATM
30 11.99 CDKN2A CDKN1B ATM APC
31
Show member pathways
11.96 CHEK2 CDKN2A CDKN1B BRCA1
32 11.88 FANCC BRIP1 BRCA2 BRCA1 BLM ATR
33
Show member pathways
11.82 CHEK2 BRCA1 ATM
34 11.8 CHEK2 CDH1 BRCA2 BRCA1 BMPR1A BLM
35 11.77 CDH1 AXIN2 APC
36
Show member pathways
11.73 CHEK2 CDKN2A ATM
37 11.73 CDKN2A BRCA1 ATM
38 11.73 CDKN1B BRCA1 ATM
39 11.67 CDKN1B BLM ATM
40 11.67 CHEK2 BRCA1 ATM
41 11.62 CHEK2 ATR ATM
42 11.5 CHEK2 ATR ATM
43
Show member pathways
11.48 CHEK2 ATR ATM
44