MCID: FML053
MIFTS: 51

Familial Colorectal Cancer

Categories: Rare diseases, Cancer diseases, Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Familial Colorectal Cancer

MalaCards integrated aliases for Familial Colorectal Cancer:

Name: Familial Colorectal Cancer 50 29
Colorectal Cancer, Familial 50

Classifications:



Summaries for Familial Colorectal Cancer

NIH Rare Diseases : 50 familial colon cancer is a cluster of colon cancer within a family. most cases of colon cancer occur sporadically in people with little to no family history of the condition. approximately 3-5% of colon cancer is considered "hereditary" and is thought to be caused by an inherited predisposition to colon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. in some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the apc, myh, mlh1, msh2, msh6, pms2, epcam, pten, stk11, smad4, bmpr1a, nthl1, pole, and pold1 genes (which are associated with hereditary cancer syndromes). an additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. these clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle.high-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. last updated: 4/26/2016

MalaCards based summary : Familial Colorectal Cancer, also known as colorectal cancer, familial, is related to colorectal cancer and familial colorectal cancer type x. An important gene associated with Familial Colorectal Cancer is MT-CYB (Mitochondrially Encoded Cytochrome B), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and liver, and related phenotypes are cellular and homeostasis/metabolism

Related Diseases for Familial Colorectal Cancer

Diseases in the Colorectal Cancer family:

Colorectal Cancer 6 Colorectal Cancer 2
Colorectal Cancer 1 Colorectal Cancer 5
Colorectal Cancer 7 Colorectal Cancer 12
Colorectal Cancer 8 Colorectal Cancer 9
Colorectal Cancer 3 Colorectal Cancer 10
Colorectal Cancer 11 Familial Colorectal Cancer
Hereditary Colorectal Cancer Familial Colorectal Cancer Type X

Diseases related to Familial Colorectal Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 26.2 APC BRAF CDH1 MLH1 MSH2 MT-CO1
2 familial colorectal cancer type x 12.1
3 large intestine adenocarcinoma 10.8 MLH1 MSH2
4 optic nerve sheath meningioma 10.8 MLH1 MSH2
5 benign fibrous mesothelioma 10.7 MLH1 MSH2
6 psoriasis 10.7 MLH1 MSH2
7 acute cholinergic dysautonomia 10.7 MSH2 TP53
8 cataract 27, nuclear progressive 10.7 MLH1 MSH2
9 renal pelvis urothelial papilloma 10.7 CDH1 TP53
10 autosomal dominant complex spastic paraplegia type 9b 10.7 POLD1 POLE
11 angioimmunoblastic lymphadenopathy with dysproteinemia 10.7 MLH1 MSH2
12 mirror polydactyly-vertebral segmentation-limbs defects syndrome 10.6 BRAF TP53
13 auditory neuropathy 10.6 APC MSH2 MUTYH
14 hereditary persistence of fetal hemoglobin, klf1-related 10.6 APC MLH1 MUTYH
15 mismatch repair cancer syndrome 10.6 APC MLH1 MSH2
16 pilocytic astrocytoma of cerebellum 10.6 BRAF TP53
17 thyroid gland disease 10.6 MLH1 MSH2
18 muir-torre syndrome 10.6 MLH1 MSH2 MUTYH
19 rectum squamous cell carcinoma 10.6 APC MLH1 TP53
20 split hand split foot nystagmus 10.5 BRAF TP53
21 hand dermatosis 10.5 MLH1 MSH2 TP53
22 cellular myxoid liposarcoma 10.5 MLH1 MSH2 TP53
23 male reproductive organ benign neoplasm 10.5 MLH1 MUTYH TP53
24 brenner tumor of the vagina 10.5 APC TP53
25 lichen nitidus 10.5 BRAF MSH2 TP53
26 benign shuddering attacks 10.4 CDH1 MLH1 TP53
27 dysembryoplastic neuroepithelial tumor 10.4 CDH1 MSH2 TP53
28 melanocytic nevus syndrome, congenital, somatic 10.4 MLH1 MSH2
29 intestinal perforation 10.4 SLC10A2 TP53
30 atrophic gastritis 10.4 BRAF MLH1 TP53
31 nail disorder, nonsyndromic congenital, 1 10.4 CDH1 MLH1 TP53
32 acute porphyria 10.4 CDH1 MLH1 TP53
33 congenital hypomyelination neuropathy 10.3 MLH1 MSH2 MUTYH TP53
34 lymphoplasmacytic lymphoma 10.3 MLH1 MSH2 MUTYH TP53
35 rectum sarcoma 10.3 MLH1 MSH2 MUTYH TP53
36 trachea squamous cell carcinoma 10.3 CDH1 MLH1 MSH2 TP53
37 gastrointestinal neuroendocrine tumor 10.3 CDH1 MLH1 MUTYH TP53
38 bardet-biedl syndrome 10.3 CDH1 MLH1 MSH2 TP53
39 coloboma of inferior eyelid 10.3 APC BRAF MUTYH TP53
40 lynch syndrome 10.2
41 vocal cord scarring 10.1 MLH1 MSH2 SMAD7
42 malignant syringoma 10.1 BRAF TP53
43 gastric cancer, somatic 10.1 APC CDH1 MLH1 MUTYH TP53
44 gallbladder cancer 10.1 CDH1 MLH1 MSH2 MUTYH TP53
45 hartnup disorder 10.0 BRAF CDH1 TP53
46 brenner tumor of ovary 10.0 APC TP53
47 microphthalmia/anophthalmia/coloboma spectrum 10.0 APC MT-CO2 MUTYH TP53
48 gastric fundus cancer 10.0 APC CDH1 MLH1 MUTYH TP53
49 arteritic anterior ischemic optic neuropathy 10.0 BRAF CDH1 MLH1 MSH2 TP53
50 adenoma 10.0

Graphical network of the top 20 diseases related to Familial Colorectal Cancer:



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 APC BRAF CDH1 MLH1 MSH2 MT-CO1
2 homeostasis/metabolism MP:0005376 10.11 BRAF APC CDH1 MLH1 MSH2 MT-CO1
3 immune system MP:0005387 10.02 APC BRAF CDH1 MSH2 MT-CO1 POLD1
4 digestive/alimentary MP:0005381 10.01 APC BRAF CDH1 MLH1 MSH2 SLC10A2
5 integument MP:0010771 9.91 APC BRAF CDH1 MLH1 MSH2 POLD1
6 mortality/aging MP:0010768 9.9 APC BRAF CDH1 MLH1 MSH2 MUTYH
7 muscle MP:0005369 9.5 APC BRAF MT-CO1 POLD1 PTPRJ SMAD7
8 neoplasm MP:0002006 9.32 APC BRAF CDH1 MLH1 MSH2 MUTYH

Drugs & Therapeutics for Familial Colorectal Cancer

Drugs for Familial Colorectal Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 119)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2
Celecoxib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 169590-42-5 2662
3 Anti-Bacterial Agents Phase 4,Phase 2
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2
5 Erythromycin Estolate Phase 4
6 Erythromycin Ethylsuccinate Phase 4
7 Erythromycin stearate Phase 4
8 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
9 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
10 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
13 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
17
Tolnaftate Approved, Vet_approved Phase 3 2398-96-1 5510
18
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
19
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
20
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 97682-44-5, 100286-90-6 60838
21
Levoleucovorin Approved Phase 3,Phase 2 68538-85-2
22
Oxaliplatin Approved, Investigational Phase 3,Phase 2,Phase 1 61825-94-3 5310940 9887054 43805 6857599
23
Sulindac Approved Phase 3,Phase 2 38194-50-2 5352 1548887
24
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
25
Cetuximab Approved Phase 3,Phase 2 205923-56-4 56842117 2333
26
Capecitabine Approved, Investigational Phase 2, Phase 3 154361-50-9 60953
27
Loperamide Approved Phase 3 53179-11-6 3955
28
Floxuridine Approved Phase 3 50-91-9 5790
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
31
Ornithine Approved, Nutraceutical Phase 3,Phase 2 70-26-8, 3184-13-2 6262 389
32
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
33 Cholagogues and Choleretics Phase 2, Phase 3
34 Antidotes Phase 3,Phase 2
35 Antimetabolites Phase 3,Phase 2
36 Antimetabolites, Antineoplastic Phase 3,Phase 2
37 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
38 Calcium, Dietary Phase 3,Phase 2
39 Immunosuppressive Agents Phase 3,Phase 2
40 Micronutrients Phase 3,Phase 2
41 Protective Agents Phase 3,Phase 2
42 topoisomerase I inhibitors Phase 3,Phase 2
43 Topoisomerase Inhibitors Phase 3,Phase 2
44 Trace Elements Phase 3,Phase 2
45 Vitamin B Complex Phase 3,Phase 2
46 Vitamins Phase 3,Phase 2
47 Angiogenesis Inhibitors Phase 3,Phase 2,Phase 1
48 Angiogenesis Modulating Agents Phase 3,Phase 2,Phase 1
49 Antibodies Phase 3,Phase 2
50 Immunoglobulins Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 184)

id Name Status NCT ID Phase Drugs
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4 Erythromycin
2 Participation and Detection Rate Diagnostic of a Colorectal Cancer Screening Program: CT Colonography vs. Flexible Sigmoidoscopy Unknown status NCT01739608 Phase 4
3 Trial of Patient Navigation-Activation Completed NCT00496678 Phase 4
4 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4 Erythromycin
5 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4 Celecoxib
6 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) (0966-205)(TERMINATED) Terminated NCT00140894 Phase 4 MK0966; rofecoxib / Duration of Treatment: 24 weeks;Comparator: placebo / Duration of Treatment: 24 weeks
7 Effectiveness of Instillation of Blue Water (Indigo Carmin®) for Colonoscopy Unknown status NCT01937429 Phase 3
8 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3 Ursodeoxycholic acid;Placebo
9 Educational Intervention With or Without Telephone Counseling in Increasing Colorectal Cancer Screening Compliance in Brothers and Sisters of Patients With Colorectal Cancer Completed NCT00352638 Phase 3
10 Study of Using Computerized Education to Increase Patients' Confidence in Their Ability to Be Screened for Colon Cancer Completed NCT00273585 Phase 3
11 Long-term Follow-up Study Designed to Evaluate the Relative Risk of Two Colonoscopy Schedules for Patients With Small Polyps Completed NCT00032344 Phase 3
12 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3 celecoxib
13 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3 Eicosapentanoic Acid (EPA);Placebo
14 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3 Celecoxib;Ursodeoxycholic acid;Placebo
15 Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer Completed NCT00003594 Phase 3 irinotecan;fluorouracil;leucovorin calcium;oxaliplatin
16 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3 Loperamide
17 S0820, Adenoma and Second Primary Prevention Trial Recruiting NCT01349881 Phase 3 Eflornithine placebo & sulindac placebo;eflornithine & sulindac placebo;Eflornithine placebo & sulindac;Eflornithine plus sulindac
18 PROSPECT: Chemotherapy Alone or Chemotherapy Plus Radiation Therapy in Treating Patients With Locally Advanced Rectal Cancer Undergoing Surgery Recruiting NCT01515787 Phase 2, Phase 3 FOLFOX (chemotherapy)
19 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3 Eflornithine plus Sulindac;Eflornithine and Placebo;Sulindac and Placebo
20 Cetuximab and/or Bevacizumab Combined With Combination Chemotherapy in Treating Patients With Metastatic Colorectal Cancer Active, not recruiting NCT00265850 Phase 3 FOLFOX or;FOLFIRI
21 Oxaliplatin and Capecitabine With or Without an Hepatic Arterial Infusion With Floxuridine in Treating Patients Who Are Undergoing Surgery and/or Ablation for Liver Metastases Due to Colorectal Cancer Terminated NCT00268463 Phase 3 capecitabine;floxuridine;oxaliplatin
22 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3 Celecoxib;Placebo
23 Irinotecan and Cetuximab With or Without Bevacizumab in Treating Patients With Metastatic Colorectal Cancer That Progressed During First-Line Therapy Terminated NCT00499369 Phase 3 irinotecan hydrochloride;leucovorin calcium;fluorouracil
24 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3 exisulind
25 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3 Eflornithine plus Sulindac;Eflornithine plus Placebo;Sulindac plus Placebo
26 Association of Colorectal Cancer With Nutrition, Diet, Obesity, Diabetes Mellitus, and Genetic Alterations in Taiwan Unknown status NCT00172757 Phase 2
27 Irinotecan Hydrochloride and Cetuximab With or Without Ramucirumab in Treating Patients With Advanced Colorectal Cancer With Progressive Disease After Treatment With Bevacizumab-Containing Chemotherapy Unknown status NCT01079780 Phase 2 irinotecan hydrochloride
28 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2 Sulindac (drug);VSL#3 (probiotic);Inulin (probiotic)
29 Bevacizumab and Oxaliplatin Combined With Irinotecan or Leucovorin and Fluorouracil in Treating Patients With Metastatic or Recurrent Colorectal Cancer Unknown status NCT00098787 Phase 2 fluorouracil;irinotecan hydrochloride;leucovorin calcium;Oxaliplatin
30 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2 Curcumin
31 Erlotinib Hydrochloride in Treating Patients With Stage I-III Colorectal Cancer or Adenoma Completed NCT00754494 Phase 2 erlotinib hydrochloride
32 Cellular Immune Augmentation in Colon and Rectal Cancer Completed NCT00257322 Phase 2 GM-CSF
33 ICIBS Trial - Improving Patient Information About Bowel Cancer Screening - a Decision Aid Trial Completed NCT00148226 Phase 2
34 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2 Erlotinib;Sulindac;Placebo A;Placebo B
35 Yoga Cancer Rehabilitation Study: A Randomized Trial of Adaptive Yoga for Older Cancer Survivors Completed NCT01324102 Phase 1, Phase 2
36 Self-monitoring and Reminder Texts to Increase Physical Activity After Cancer: a Pilot Randomized Controlled Trial Completed NCT02966054 Phase 2
37 Weekly Oxaliplatin and Irinotecan in Recurrent or Metastatic Esophageal Carcinoma Completed NCT00256269 Phase 2 Oxaliplatin;Irinotecan
38 Sorafenib and Bevacizumab in Treating Patients With Metastatic Colorectal Cancer Completed NCT00826540 Phase 2 sorafenib tosylate
39 FOLFOXIRI Plus Panitumumab Patients With Metastatic KRAS Wild-Type Colorectal Cancer With Liver Metastases Only Completed NCT01226719 Phase 2 Panitumumab;Oxaliplatin;Irinotecan;Leucovorin;5-Fluorouracil
40 Morphotek Investigation in Colorectal Cancer: Research of MORAb-004 (MICRO) Completed NCT01507545 Phase 2 MORAb-004;Placebo
41 SWOG-S9635 Fluorouracil Plus Ethynyluracil in Advanced Colorectal Cancer Not Responded to Fluorouracil Completed NCT00003254 Phase 2 ethynyluracil;fluorouracil
42 Fluorouracil and Leucovorin With or Without Oxaliplatin in Treating Patients With Recurrent Metastatic Colorectal Cancer Completed NCT00016198 Phase 2 FOLFOX regimen;fluorouracil;leucovorin calcium;oxaliplatin
43 S0030: Capecitabine in Treating Older Patients W/Metastatic or Recurrent Colorectal Cancer That Cannot Be Surgically Removed Completed NCT00049335 Phase 2 capecitabine
44 FR901228 in Treating Patients With Previously Treated Unresectable Locally Advanced or Metastatic Colorectal Cancer Completed NCT00077337 Phase 2 romidepsin
45 Trametinib and Navitoclax in Treating Patients With Advanced or Metastatic Solid Tumors Recruiting NCT02079740 Phase 1, Phase 2 Trametinib
46 Sirolimus and Familial Adenomatous Polyposis (FAP) Recruiting NCT03095703 Phase 2 Sirolimus
47 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2 Celecoxib
48 Trial of Aspirin and Arginine Restriction in Colorectal Cancer Active, not recruiting NCT00578721 Phase 2 Aspirin
49 S1406 Phase II Study of Irinotecan and Cetuximab With or Without Vemurafenib in BRAF Mutant Metastatic Colorectal Cancer Active, not recruiting NCT02164916 Phase 2 irinotecan hydrochloride;vemurafenib
50 Safety and Effectiveness Study of Pre-operative Artesunate in Stage II/III Colorectal Cancer (NeoART-V) Not yet recruiting NCT03093129 Phase 2 artesunate

Search NIH Clinical Center for Familial Colorectal Cancer

Genetic Tests for Familial Colorectal Cancer

Genetic tests related to Familial Colorectal Cancer:

id Genetic test Affiliating Genes
1 Familial Colorectal Cancer 29

Anatomical Context for Familial Colorectal Cancer

MalaCards organs/tissues related to Familial Colorectal Cancer:

39
Colon, Testes, Liver, Prostate, Breast, Pancreas, Endothelial

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 172)
id Title Authors Year
1
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland. ( 28660566 )
2017
2
Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients. ( 28306719 )
2017
3
Differential expression of CK20, I^-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. ( 28824332 )
2017
4
Intervention Mediators in a Randomized Controlled Trial to Increase Colonoscopy Uptake Among Individuals at Increased Risk of Familial Colorectal Cancer. ( 28236077 )
2017
5
Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer. ( 28587529 )
2017
6
Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer. ( 28936633 )
2017
7
Accuracy of Colon Capsule Endoscopy in Detecting Colorectal Polyps in Individuals with Familial Colorectal Cancer: Could We Avoid Colonoscopies? ( 28265285 )
2017
8
Do alcoholic beverages, obesity and other nutritional factors modify the risk of familial colorectal cancer? A systematic review. ( 28927785 )
2017
9
Evaluation of a Population Based Approach to Familial Colorectal Cancer. ( 27696385 )
2016
10
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study. ( 27310819 )
2016
11
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer. ( 26687117 )
2016
12
Familial Colorectal Cancer: Understanding the Alphabet Soup. ( 27582643 )
2016
13
Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK. ( 27207111 )
2016
14
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. ( 27356891 )
2016
15
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. ( 27671100 )
2016
16
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer. ( 26935832 )
2016
17
Screening colonoscopy intervals in familial colorectal cancer. ( 28138582 )
2016
18
Familial colorectal cancer: Patient assessment, surveillance and surgical management. ( 27546013 )
2016
19
Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer. ( 26527788 )
2015
20
Hereditary and common familial colorectal cancer: evidence for colorectal screening. ( 25501924 )
2015
21
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. ( 26133394 )
2015
22
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. ( 26300997 )
2015
23
Survival in familial colorectal cancer: a Danish cohort study. ( 25963853 )
2015
24
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. ( 25992589 )
2015
25
Familial colorectal cancer syndromes: an overview of clinical management. ( 25779305 )
2015
26
Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. ( 25604623 )
2015
27
Familial colorectal cancer screening: When and what to do? ( 26185367 )
2015
28
Familial colorectal cancer. ( 25955461 )
2015
29
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. ( 26305882 )
2015
30
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study. ( 26223561 )
2015
31
Familial colorectal cancer: a review. ( 25071323 )
2014
32
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. ( 24814045 )
2014
33
Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum. ( 25404568 )
2014
34
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. ( 24918813 )
2014
35
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. ( 25307848 )
2014
36
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. ( 25381643 )
2014
37
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. ( 25075943 )
2014
38
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. ( 25058500 )
2014
39
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. ( 24501277 )
2014
40
Familial colorectal cancer type X: genetic profiles and phenotypic features. ( 24743215 )
2014
41
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. ( 25127679 )
2014
42
A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer. ( 23901040 )
2014
43
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. ( 24115450 )
2014
44
Familial colorectal cancer screening: so close, so far. ( 23347673 )
2013
45
Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives. ( 23451840 )
2013
46
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. ( 23007840 )
2013
47
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. ( 24127187 )
2013
48
Familial Colorectal Cancer, Beyond Lynch Syndrome. ( 23962553 )
2013
49
Eleven candidate susceptibility genes for common familial colorectal cancer. ( 24146633 )
2013
50
Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x. ( 23951239 )
2013

Variations for Familial Colorectal Cancer

ClinVar genetic disease variations for Familial Colorectal Cancer:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh37 Chromosome MT, 7275: 7275
2 MT-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh37 Chromosome MT, 8009: 8009
3 MT-CO1 m.6264G> A single nucleotide variant Pathogenic rs267606882 GRCh37 Chromosome MT, 6264: 6264
4 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh37 Chromosome MT, 6277: 6277
5 MT-CYB m.14985G> A single nucleotide variant Pathogenic rs207459995 GRCh37 Chromosome MT, 14985: 14985
6 MT-CYB m.15572T> C single nucleotide variant Pathogenic rs207459996 GRCh37 Chromosome MT, 15572: 15572
7 MT-ND4L m.10563T> C single nucleotide variant Pathogenic rs267606892 GRCh37 Chromosome MT, 10563: 10563
8 PLA2G2A NM_000300.3(PLA2G2A): c.144_145delTG (p.Cys48Trpfs) deletion Pathogenic rs587776800 GRCh37 Chromosome 1, 20304913: 20304914
9 APC NM_000038.5(APC): c.190G> T (p.Gly64Ter) single nucleotide variant Pathogenic rs79323615 GRCh37 Chromosome 5, 112102077: 112102077

Expression for Familial Colorectal Cancer

Search GEO for disease gene expression data for Familial Colorectal Cancer.

Pathways for Familial Colorectal Cancer

Pathways related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 MLH1 MSH2 MUTYH POLD1 POLE TP53
2
Show member pathways
12.79 MLH1 MSH2 MT-CO1 MT-CO2 TP53
3
Show member pathways
12.55 APC BRAF CDH1 PTPRJ TP53
4
Show member pathways
12.49 MSH2 POLD1 POLE TP53
5
Show member pathways
12.34 APC BRAF CDH1 MLH1 MSH2 TP53
6 12.31 MLH1 MSH2 MUTYH TP53
7 12.23 APC POLD1 POLE TP53
8 12.23 APC BRAF CDH1 MLH1 MSH2 TP53
9 11.79 APC BRAF TP53
10 11.74 APC MLH1 MSH2 TP53
11 11.64 MT-CO1 MT-CO2 TP53
12 11.57 APC CDH1 MT-CO2
13 11.55 MT-CO1 MT-CO2 MT-CYB
14
Show member pathways
11.55 MLH1 MSH2 POLD1 POLE
15 11.54 BRAF CDH1 MSH2 SMAD7 TP53
16 11.47 BRAF CDH1 TP53
17 11.44 MLH1 MSH2 TP53
18 11.32 APC BRAF CDH1 MLH1 MSH2 TP53
19
Show member pathways
11.15 MLH1 MSH2 TP53

GO Terms for Familial Colorectal Cancer

Cellular components related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.43 APC CDH1 SMAD7
2 mitochondrial respiratory chain complex IV GO:0005751 9.4 MT-CO1 MT-CO2
3 respiratory chain GO:0070469 9.26 MT-CO1 MT-CO2 MT-CYB MT-ND4L
4 respiratory chain complex IV GO:0045277 9.16 MT-CO1 MT-CO2
5 mitochondrial respiratory chain complex III GO:0005750 9.07 MT-CYB
6 catenin complex GO:0016342 8.8 APC CDH1 SMAD7
7 membrane GO:0016020 10.17 APC BRAF CDH1 MLH1 MSH2 MT-CO1

Biological processes related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.72 MLH1 MSH2 MUTYH POLD1 POLE
2 hydrogen ion transmembrane transport GO:1902600 9.65 MT-CO1 MT-CO2 MT-CYB
3 response to copper ion GO:0046688 9.56 MT-CO1 MT-CYB
4 somatic hypermutation of immunoglobulin genes GO:0016446 9.55 MLH1 MSH2
5 isotype switching GO:0045190 9.54 MLH1 MSH2
6 oxidative phosphorylation GO:0006119 9.52 MSH2 MT-CO1
7 determination of adult lifespan GO:0008340 9.51 MSH2 TP53
8 cellular response to DNA damage stimulus GO:0006974 9.5 APC MLH1 MSH2 MUTYH POLD1 POLE
9 positive regulation of isotype switching to IgG isotypes GO:0048304 9.49 MLH1 MSH2
10 ATP synthesis coupled electron transport GO:0042773 9.46 MT-CO2 MT-ND4L
11 somatic recombination of immunoglobulin gene segments GO:0016447 9.43 MLH1 MSH2
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.4 MLH1 MSH2
13 base-excision repair, gap-filling GO:0006287 9.37 POLD1 POLE
14 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.26 MLH1 MSH2
15 DNA replication proofreading GO:0045004 9.16 POLD1 POLE
16 mismatch repair GO:0006298 8.92 MLH1 MSH2 MUTYH POLD1

Molecular functions related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.63 MUTYH POLD1 POLE
2 damaged DNA binding GO:0003684 9.61 MSH2 POLD1 TP53
3 3-5 exonuclease activity GO:0008408 9.49 POLD1 POLE
4 mismatched DNA binding GO:0030983 9.48 MLH1 MSH2
5 MutLalpha complex binding GO:0032405 9.4 MSH2 MUTYH
6 4 iron, 4 sulfur cluster binding GO:0051539 9.33 MUTYH POLD1 POLE
7 MutSalpha complex binding GO:0032407 9.32 MLH1 MUTYH
8 guanine/thymine mispair binding GO:0032137 9.26 MLH1 MSH2
9 beta-catenin binding GO:0008013 9.26 APC CDH1 PTPRJ SMAD7
10 gamma-catenin binding GO:0045295 8.8 APC CDH1 PTPRJ
11 metal ion binding GO:0046872 10.11 BRAF CDH1 MT-CO1 MT-CO2 MT-CYB MUTYH

Sources for Familial Colorectal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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