MCID: FNC062
MIFTS: 29

Fanconi Anemia, Complementation Group S

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group S

MalaCards integrated aliases for Fanconi Anemia, Complementation Group S:

Name: Fanconi Anemia, Complementation Group S 57 29 6 40
Fancs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three unrelated patients have been reported (last curated february 2018)


Classifications:



External Ids:

OMIM 57 617883

Summaries for Fanconi Anemia, Complementation Group S

OMIM : 57 Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (617883)

MalaCards based summary : Fanconi Anemia, Complementation Group S, also known as fancs, is related to fanconi anemia, complementation group e and fanconi anemia, complementation group a. An important gene associated with Fanconi Anemia, Complementation Group S is BRCA1 (BRCA1, DNA Repair Associated). The drugs Carboplatin and Olaparib have been mentioned in the context of this disorder. Affiliated tissues include breast, lung and prostate.

Related Diseases for Fanconi Anemia, Complementation Group S

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group S:



Diseases related to Fanconi Anemia, Complementation Group S

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group S

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
microphthalmia
blepharophimosis
long eyelashes
epicanthal folds
more
Neurologic Central Nervous System:
intellectual disability
developmental delay
speech delay

Head And Neck Mouth:
narrow palate
thick upper lip

Head And Neck Head:
microcephaly

Head And Neck Nose:
prominent nasal bridge
small alae nasi
anteverted nose

Head And Neck Face:
coarse facies
dysmorphic features, variable
macrognathia

Laboratory Abnormalities:
increased chromosomal breakage

Head And Neck Ears:
thick earlobes

Hematology:
anemia (when stressed, in some patients)

Skeletal Hands:
clinodactyly
proximally placed thumbs (in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Teeth:
dental malocclusion
large teeth

Growth Height:
short stature

Skin Nails Hair Hair:
low anterior hairline
sparse hair

Neoplasia:
breast cancer
ovarian cancer
increased susceptibility to cancer

Skin Nails Hair Skin:
pigmentary abnormalities

Skeletal Limbs:
radial ray anomalies (in some patients)
hyperextensible knees


Clinical features from OMIM:

617883

Drugs & Therapeutics for Fanconi Anemia, Complementation Group S

Drugs for Fanconi Anemia, Complementation Group S (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 1 41575-94-4 10339178 498142 38904
2
Olaparib Approved Phase 3,Phase 2,Phase 1 763113-22-0 23725625
3
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
4
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
5
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
6
Niraparib Approved, Investigational Phase 3,Phase 1 1038915-60-4 24958200
7
Vinorelbine Approved, Investigational Phase 3,Phase 2 71486-22-1 60780 44424639
8
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
9
Topotecan Approved, Investigational Phase 2, Phase 3 119413-54-6, 123948-87-8 60700
10 Talazoparib Investigational Phase 3,Phase 2,Phase 1 1207456-01-6
11
Cediranib Investigational Phase 3,Phase 2,Phase 1 288383-20-0 9933475
12
Doxil Approved June 1999 Phase 3,Phase 2 31703
13
Maleic acid Experimental Phase 3,Phase 2,Phase 1 110-16-7 444266
14 Anti-Infective Agents Phase 3,Phase 2,Phase 1
15 Antimetabolites Phase 3,Phase 2,Phase 1
16 Antiviral Agents Phase 3,Phase 2,Phase 1
17 Poly(ADP-ribose) Polymerase Inhibitors Phase 3,Phase 2,Phase 1
18 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
19 Anti-Bacterial Agents Phase 3,Phase 2
20 Antibiotics, Antitubercular Phase 3,Phase 2
21 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
22 Antimitotic Agents Phase 3,Phase 2,Phase 1
23 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
24 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
25 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
26 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
27 Mitogens Phase 3
28 topoisomerase I inhibitors Phase 2, Phase 3,Phase 1
29
Vinblastine Approved Phase 2 865-21-4 13342 241903
30
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
31
Pancrelipase Approved, Investigational Phase 2,Phase 1 53608-75-6
32
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
33
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
34
Fluorouracil Approved Phase 1, Phase 2 51-21-8 3385
35
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
36
Levoleucovorin Approved, Investigational Phase 1, Phase 2 68538-85-2
37
Rucaparib Approved, Investigational Phase 1, Phase 2 283173-50-2 9931954
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
41
leucovorin Approved, Nutraceutical Phase 1, Phase 2,Phase 2 58-05-9 143 6006
42
Veliparib Investigational Phase 2,Phase 1 912444-00-9 11960529
43
Tremelimumab Investigational Phase 1, Phase 2 745013-59-6
44
Camptothecin Experimental Phase 1, Phase 2 7689-03-4
45 Protective Agents Phase 1, Phase 2,Not Applicable
46 Vinca Alkaloids Phase 2
47 Antibodies Phase 1, Phase 2,Phase 2
48 Antibodies, Monoclonal Phase 1, Phase 2,Phase 2
49 Immunoglobulin G Phase 1, Phase 2
50 Immunoglobulins Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 National Screening in Denmark With MR Versus Mammography and Ultrasound of Women With BRCA1 or BRCA2 Mutations Unknown status NCT00413491 Phase 4
2 Olaparib or Cediranib Maleate and Olaparib Compared With Standard Platinum-Based Chemotherapy in Treating Patients With Recurrent Platinum-Sensitive Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Recruiting NCT02446600 Phase 3 Carboplatin;Cediranib Maleate;Gemcitabine Hydrochloride;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride
3 A Phase III Trial of Niraparib Versus Physician's Choice in HER2 Negative, Germline BRCA Mutation-positive Breast Cancer Patients Active, not recruiting NCT01905592 Phase 3 niraparib;Physician's choice
4 Assessment of the Efficacy and Safety of Olaparib Monotherapy Versus Physicians Choice Chemotherapy in the Treatment of Metastatic Breast Cancer Patients With Germline BRCA1/2 Mutations. Active, not recruiting NCT02000622 Phase 3 Olaparib;Physician's choice chemotherapy
5 A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (EMBRACA Study) Active, not recruiting NCT01945775 Phase 3 talazoparib;Physician's-Choice
6 Cediranib Maleate and Olaparib or Standard Chemotherapy in Treating Patients With Recurrent Platinum-Resistant or -Refractory Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Suspended NCT02502266 Phase 2, Phase 3 Cediranib Maleate;Olaparib;Paclitaxel;Pegylated Liposomal Doxorubicin Hydrochloride;Topotecan Hydrochloride
7 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Ovarian Cancer Completed NCT00494442 Phase 2 KU-0059436 (AZD2281)(PARP inhibitor);KU-0059436 (AZD2281)(PARP inhibitor)
8 Vinorelbine in Mesothelioma Recruiting NCT02139904 Phase 2 Vinorelbine
9 Olaparib, Durvalumab, and Tremelimumab in Treating Patients With Recurrent or Refractory Ovarian, Fallopian Tube or Primary Peritoneal Cancer With BRCA1 or BRCA2 Mutation Recruiting NCT02953457 Phase 1, Phase 2 Olaparib
10 Pembrolizumab in Treating Participants With Metastatic, Recurrent or Locally Advanced Cancer and Genomic Instability Recruiting NCT03428802 Phase 2
11 Olaparib and Atezolizumab Either Alone or in Combination in Treating Patients With Stage III-IV Triple Negative Breast Cancer Recruiting NCT02849496 Phase 2 Atezolizumab;Olaparib
12 Gemcitabine Hydrochloride and Cisplatin With or Without Veliparib or Veliparib Alone in Treating Patients With Locally Advanced or Metastatic Pancreatic Cancer Recruiting NCT01585805 Phase 2 Cisplatin;Gemcitabine Hydrochloride;Veliparib
13 Lung-MAP: Talazoparib in Treating Patients With HRRD Positive Recurrent Stage IV Squamous Cell Lung Cancer Recruiting NCT03377556 Phase 2 Talazoparib
14 Cisplatin With or Without Veliparib in Treating Patients With Recurrent or Metastatic Triple-Negative and/or BRCA Mutation-Associated Breast Cancer With or Without Brain Metastases Recruiting NCT02595905 Phase 2 Cisplatin;Veliparib
15 Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial) Recruiting NCT03233204 Phase 2 Olaparib
16 Correlate BRCA1 Protein Expression With Response to DNA Damaging Chemotherapy Active, not recruiting NCT01990352 Phase 2 Pegylated liposomal doxorubicin
17 A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study) Active, not recruiting NCT02034916 Phase 2 talazoparib
18 ABT-888 and Temozolomide for Metastatic Breast Cancer and BRCA1/2 Breast Cancer Active, not recruiting NCT01009788 Phase 2 ABT-888;temozolomide
19 Dose-finding Study Comparing Efficacy and Safety of a PARP Inhibitor Against Doxil in BRCA+ve Advanced Ovarian Cancer Active, not recruiting NCT00628251 Phase 2 AZD2281;Liposomal Doxorubicin;AZD2281
20 Study to Assess the Efficacy and Safety of a PARP Inhibitor for the Treatment of BRCA-positive Advanced Breast Cancer Active, not recruiting NCT00494234 Phase 2 KU-0059436 (AZD2281) (PARP inhibitor);KU-0059436 (AZD2281) (PARP inhibitor)
21 Olaparib and Cediranib Maleate in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Active, not recruiting NCT02345265 Phase 2 Cediranib Maleate;Olaparib
22 Cediranib Maleate and Olaparib in Treating Patients With Recurrent Ovarian, Fallopian Tube, or Peritoneal Cancer or Recurrent Triple-Negative Breast Cancer Active, not recruiting NCT01116648 Phase 1, Phase 2 Cediranib Maleate;Olaparib
23 Docetaxel, Carboplatin, and Rucaparib Camsylate in Treating Patients With Metastatic Castration Resistant Prostate Cancer With Homologous Recombination DNA Repair Deficiency Not yet recruiting NCT03442556 Phase 2 Carboplatin;Docetaxel;Rucaparib Camsylate
24 Liposomal Irinotecan, Fluorouracil, Leucovorin Calcium, and Rucaparib in Treating Patients With Metastatic Pancreatic, Colorectal, Gastroesophageal, or Biliary Cancer Not yet recruiting NCT03337087 Phase 1, Phase 2 Fluorouracil;Leucovorin Calcium;Liposomal Irinotecan;Rucaparib
25 Olaparib Before Surgery in Treating Participants With Localized Prostate Cancer Not yet recruiting NCT03570476 Phase 2 Olaparib
26 Olaparib in Treating Patients With Metastatic or Advanced Urothelial Cancer With DNA-Repair Defects Not yet recruiting NCT03375307 Phase 2 Olaparib
27 A Genetic Substudy Associated With the Avastin (Bevacizumab) Study MO19390 in Patients With Advanced or Recurrent Non-Squamous Cell Lung Cancer. Terminated NCT00642824 Phase 2 Standard chemotherapy;bevacizumab [Avastin]
28 The Potential for Oral Diindolylmethane (DIM) Supplementation to Increase the Production of the BRCA1 Protein in BRCA1 Mutation Carriers Unknown status NCT01022333 Phase 1
29 Study of Talazoparib, a PARP Inhibitor, in Patients With Advanced or Recurrent Solid Tumors Completed NCT01286987 Phase 1 Talazoparib
30 Veliparib and Carboplatin in Treating Patients With HER2-Negative Metastatic Breast Cancer Completed NCT01251874 Phase 1 Carboplatin;Veliparib
31 Study Evaluating the Antitumor Activity and Safety of Niraparib as Neoadjuvant Treatment Recruiting NCT03329937 Phase 1 Niraparib
32 Veliparib and Dinaciclib in Treating Patients With Advanced Solid Tumors Recruiting NCT01434316 Phase 1 Dinaciclib;Veliparib
33 Cancer Prevention in Women With a BRCA Mutation Recruiting NCT02225015 Phase 1
34 Talazoparib, Carboplatin, and Paclitaxel in Treating Patients With Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02317874 Phase 1 Carboplatin;Paclitaxel;Talazoparib
35 Bexarotene in Preventing Breast Cancer in Patients at High Risk for Breast Cancer Recruiting NCT03323658 Phase 1 Bexarotene
36 A Study to Assess the Safety and Pharmacokinetics of an Inhibitor of Poly ADP-Ribose Polymerase-1 (PARP) Active, not recruiting NCT00516373 Phase 1 KU-0059436 (AZD2281)(PARP inhibitor)
37 Mirvetuximab Soravtansine and Rucaparib Camsylate in Treating Participants With Recurrent Endometrial, Ovarian, Fallopian Tube or Primary Peritoneal Cancer Not yet recruiting NCT03552471 Phase 1 Rucaparib Camsylate
38 Phase I Trial of Endoxifen Gel Versus Placebo in Women Undergoing Breast Surgery Not yet recruiting NCT03317405 Phase 1 Z-Endoxifen Hydrochloride
39 Establishing the Incidences of BRCA1 and BRCA2 Mutation by Combining DHPLC and Direct Sequencing in Ovarian Cancer Unknown status NCT00155896
40 Transformation Potential of E2 Exposed Breast Cancer Susceptibility Gene Mutation Heterozygous Epithelial Breast Cells Unknown status NCT01907438
41 Lavage of the Uterine Cavity for the Diagnosis of Serous Tubal Intraepithelial Carcinoma Unknown status NCT02039388 Not Applicable
42 A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young Women Completed NCT00858078
43 Counseling Interventions for BRCA 1/2 Cancer Susceptibility Testing Completed NCT00165152 Not Applicable
44 Risk Education and Assessment for Cancer Heredity Completed NCT01346761 Not Applicable
45 The Link Between BRCA Mutation and Endothelial Function Recruiting NCT02474264 Not Applicable
46 A Nutritional Intervention to Decrease Breast Density Among Female BRCA (BReast CAncer Susceptibility Gene) Carriers Recruiting NCT02197000 Not Applicable
47 C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer Population. Recruiting NCT02503436
48 Early Salpingectomy (Tubectomy) With Delayed Oophorectomy in BRCA1/2 Gene Mutation Carriers Recruiting NCT02321228 Not Applicable
49 Evaluation of Tomosynthesis for Characterization and the Management of Breast Lesions Recruiting NCT02959398 Not Applicable
50 Prospective Research of Outcomes After Salpingo-oophorectomy Active, not recruiting NCT01948609

Search NIH Clinical Center for Fanconi Anemia, Complementation Group S

Genetic Tests for Fanconi Anemia, Complementation Group S

Genetic tests related to Fanconi Anemia, Complementation Group S:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group S 29 BRCA1

Anatomical Context for Fanconi Anemia, Complementation Group S

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group S:

41
Breast, Lung, Prostate, Brain, Endothelial, Bone, Testes

Publications for Fanconi Anemia, Complementation Group S

Variations for Fanconi Anemia, Complementation Group S

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group S:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh37 Chromosome 17, 41245091: 41245091
2 BRCA1 NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs) deletion Pathogenic rs80357669 GRCh38 Chromosome 17, 43093074: 43093074
3 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh37 Chromosome 17, 41215948: 41215948
4 BRCA1 NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp) single nucleotide variant Pathogenic rs55770810 GRCh38 Chromosome 17, 43063931: 43063931
5 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh38 Chromosome 17, 43095919: 43095922
6 BRCA1 NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs) deletion Pathogenic rs797045175 GRCh37 Chromosome 17, 41247936: 41247939
7 BRCA1 NM_007294.3(BRCA1): c.2709T> A (p.Cys903Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 43092822: 43092822
8 BRCA1 NM_007294.3(BRCA1): c.2709T> A (p.Cys903Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 41244839: 41244839

Expression for Fanconi Anemia, Complementation Group S

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group S.

Pathways for Fanconi Anemia, Complementation Group S

GO Terms for Fanconi Anemia, Complementation Group S

Sources for Fanconi Anemia, Complementation Group S

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