MCID: FML053
MIFTS: 51

Familial Colorectal Cancer malady

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

Aliases & Classifications for Familial Colorectal Cancer

Aliases & Descriptions for Familial Colorectal Cancer:

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

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 APC (APC, WNT Signaling Pathway Regulator), and among its related pathways/superpathways are Glioma and Development HGF signaling pathway. The drugs Erythromycin and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include colon and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

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 90)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.5 APC BRAF CDH1 MLH1 MSH2 MUTYH
2 familial colorectal cancer type x 12.1
3 large intestine adenoma 10.2 MLH1 MSH2
4 benign fibrous mesothelioma 10.2 MLH1 MSH2
5 skin melanoma 10.2 MLH1 MSH2
6 aorta atresia 10.2 MLH1 MSH2
7 fibrolamellar carcinoma 10.2 MLH1 MSH2
8 neuropathy, distal hereditary motor, type viib 10.2 MLH1 MSH2
9 neurocutaneous melanosis, somatic 10.2 MLH1 MSH2
10 lynch syndrome 10.2
11 churg-strauss syndrome 10.2 MLH1 MSH2
12 cauda equina neoplasm 10.2 MLH1 MSH2
13 neurofibromatosis-noonan syndrome 10.2 MLH1 MSH2
14 acute mountain sickness 10.1 MSH2 TP53
15 acute eustachian salpingitis 10.1 CDH1 MLH1
16 fibromatosis, gingival, 1 10.1 APC MLH1 MSH2
17 uterine corpus endometrial stromal sarcoma 10.1 MLH1 TP53
18 autoimmune autonomic ganglionopathy 10.1 APC MSH2 MUTYH
19 linitis plastica 10.1 CDH1 TP53
20 collecting duct carcinoma 10.1 MLH1 MSH2
21 htr2a-related altered drug metabolism 10.1 APC MLH1 MUTYH
22 hereditary sensory and autonomic neuropathy with deafness and global delay 10.1 APC MLH1 MUTYH
23 bronchitis 10.1 CDH1 TP53
24 toxic megacolon 10.1 MSH2 TP53
25 mismatch repair cancer syndrome 10.1 MLH1 MSH2 MUTYH
26 duodenal ulcer 10.0 MLH1 TP53
27 glomerulosclerosis, focal segmental, 7 10.0 APC MUTYH SMAD4
28 gastric cancer, somatic 10.0 APC CDH1 MUTYH
29 neuroretinitis 10.0 MLH1 MSH2
30 lung mucoepidermoid carcinoma 10.0 BRAF MSH2
31 aicardi-goutieres syndrome 10.0 SMAD4 TP53
32 endometrial squamous cell carcinoma 10.0 APC MLH1 TP53
33 malignant spindle cell melanoma 10.0 MLH1 MSH2 TP53
34 pancreatic cancer 10.0 CDH1 TP53
35 larynx liposarcoma 10.0 MLH1 MSH2 TP53
36 sarcomatoid basal cell carcinoma 10.0 CDH1 TP53
37 childhood brain germinoma 10.0 MSH2 TP53
38 adenoma 10.0
39 well-differentiated thymic neuroendocrine carcinoma 10.0 BRAF TP53
40 gallbladder signet ring cell adenocarcinoma 10.0 CDH1 TP53
41 submucosal invasive colon adenocarcinoma 10.0 APC SMAD4 TP53
42 pineal gland astrocytoma 10.0 BRAF TP53
43 herpes simplex encephalitic 6 10.0 APC SMAD4 TP53
44 spondylarthropathy 10.0 BRAF TP53
45 vestibular gland benign neoplasm 9.9 MLH1 MUTYH TP53
46 tmem70 defect 9.9 BRAF TP53
47 inhibited male orgasm 9.9 BRAF TP53
48 dysembryoplastic neuroepithelial tumor 9.9 CDH1 MSH2 TP53
49 brain stem astrocytic neoplasm 9.9 BRAF TP53
50 amyloid tumor 9.9 BRAF TP53

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



Diseases related to Familial Colorectal Cancer

Symptoms & Phenotypes for Familial Colorectal Cancer

GenomeRNAi Phenotypes related to Familial Colorectal Cancer according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.23 SMAD4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.23 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.23 MLH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.23 MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.23 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.23 MLH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.23 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.23 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.23 APC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.23 SMAD4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.23 SMAD4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.23 APC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.23 SMAD4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.23 SMAD4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.23 SMAD4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.23 APC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.23 SMAD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.23 SMAD4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.23 APC MLH1 SMAD4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.23 MLH1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.23 SMAD4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.23 MLH1
23 Decreased viability GR00055-A-2 9.87 BRAF
24 Decreased viability GR00221-A-1 9.87 CDH1
25 Decreased viability GR00221-A-4 9.87 BRAF
26 Decreased viability GR00301-A 9.87 BRAF CDH1 MSH2
27 Decreased viability GR00381-A-1 9.87 BRAF
28 Decreased viability in esophageal squamous lineage GR00235-A 9.73 APC BRAF CDH1 MLH1 SMAD4 TP53
29 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 BRAF MLH1 MSH2 MUTYH TP53
30 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 APC BRAF MSH2 SMAD4

MGI Mouse Phenotypes related to Familial Colorectal Cancer:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 APC BRAF CDH1 MLH1 MSH2 MUTYH
2 digestive/alimentary MP:0005381 9.98 MLH1 MSH2 SMAD4 TP53 APC BRAF
3 homeostasis/metabolism MP:0005376 9.92 APC BRAF CDH1 MLH1 MSH2 MUTYH
4 endocrine/exocrine gland MP:0005379 9.85 APC BRAF CDH1 MLH1 SMAD4 TP53
5 embryo MP:0005380 9.8 APC BRAF CDH1 SMAD4 TP53
6 integument MP:0010771 9.8 APC BRAF CDH1 MLH1 MSH2 SMAD4
7 mortality/aging MP:0010768 9.76 CDH1 MLH1 MSH2 MUTYH SMAD4 TP53
8 neoplasm MP:0002006 9.56 APC BRAF CDH1 MLH1 MSH2 MUTYH
9 reproductive system MP:0005389 9.1 APC BRAF CDH1 MLH1 SMAD4 TP53

Drugs & Therapeutics for Familial Colorectal Cancer

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

(show top 50) (show all 168)
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 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
4 Gastrointestinal Agents Phase 4,Phase 2,Phase 3
5 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
6 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
7 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Erythromycin Estolate Phase 4
9 Erythromycin Ethylsuccinate Phase 4
10 Erythromycin stearate Phase 4
11 Anti-Bacterial Agents Phase 4,Phase 2
12 Anti-Infective Agents Phase 4,Phase 3,Phase 2
13 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Phase 1
15 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Cyclooxygenase 2 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
17 Dermatologic Agents Phase 4
18
Irinotecan Approved, Investigational Phase 3,Phase 2,Phase 1 97682-44-5, 100286-90-6 60838
19
Ursodeoxycholic acid Approved, Investigational Phase 2, Phase 3 128-13-2 31401
20
Sulindac Approved Phase 3,Phase 2 38194-50-2 5352 1548887
21
Cetuximab Approved Phase 3,Phase 2 205923-56-4 56842117 2333
22
Tolnaftate Approved, Vet_approved Phase 3 2398-96-1 5510
23
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
24
Aspirin Approved, Vet_approved Phase 3,Phase 2,Phase 1 50-78-2 2244
25
Oxaliplatin Approved, Investigational Phase 3,Phase 2,Phase 1 61825-94-3 5310940 9887054 6857599, 9887054 43805
26
Capecitabine Approved, Investigational Phase 2, Phase 3 154361-50-9 60953
27
Fluorouracil Approved Phase 3,Phase 2,Phase 1 51-21-8 3385
28
Magnesium Sulfate Approved, Vet_approved Phase 3 7487-88-9 24083
29
Levoleucovorin Approved Phase 3,Phase 2,Phase 1 68538-85-2
30
Loperamide Approved Phase 3 53179-11-6 3955
31
Floxuridine Approved Phase 3 50-91-9 5790
32
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
34
Camptothecin Experimental Phase 3,Phase 2,Phase 1 7689-03-4
35 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1
36 Mitogens Phase 3,Phase 2,Phase 1
37 Cholagogues and Choleretics Phase 2, Phase 3
38 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
39 Angiogenesis Inhibitors Phase 3,Phase 2,Phase 1
40 Angiogenesis Modulating Agents Phase 3,Phase 2,Phase 1
41 Immunoglobulins Phase 3,Phase 2
42 Antibodies Phase 3,Phase 2
43 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
44 calcium channel blockers Phase 3
45 Hematinics Phase 3,Phase 1
46 Tocolytic Agents Phase 3
47 Trace Elements Phase 3,Phase 2,Phase 1
48 Anesthetics Phase 3
49 Endothelial Growth Factors Phase 3,Phase 1
50 Vitamin B Complex Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 246)
id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
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
5 Observational Familial Adenomatous Polyposis Registry Study In Patients Receiving Celecoxib Compared to Control Patients Terminated NCT00151476 Phase 4
6 A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) Terminated NCT00140894 Phase 4
7 Assessment and Tracking of Long-term Alefacept Safety Terminated NCT00454701 Phase 4
8 NORCCAP: Norwegian Colorectal Cancer Prevention Trial Unknown status NCT00119912 Phase 2, Phase 3
9 Effectiveness of Instillation of Blue Water (Indigo Carmin®) for Colonoscopy Unknown status NCT01937429 Phase 3
10 Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients Unknown status NCT00134758 Phase 2, Phase 3
11 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
12 Study of Using Computerized Education to Increase Patients' Confidence in Their Ability to Be Screened for Colon Cancer Completed NCT00273585 Phase 3
13 Long-term Follow-up Study Designed to Evaluate the Relative Risk of Two Colonoscopy Schedules for Patients With Small Polyps Completed NCT00032344 Phase 3
14 Celecoxib to Prevent Colorectal Cancer in Patients Who Have Undergone Surgery to Remove Polyps Completed NCT00005094 Phase 3
15 Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA Completed NCT00510692 Phase 2, Phase 3
16 Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis Completed NCT00808743 Phase 2, Phase 3
17 Combination Chemotherapy in Treating Patients With Advanced Colorectal Cancer Completed NCT00003594 Phase 3
18 Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy Completed NCT01099449 Phase 3
19 Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer Completed NCT00079274 Phase 3
20 Infrared Coagulator Ablation or Observation in Preventing Anal Cancer in HIV-Positive Patients With Anal Neoplasia Completed NCT01164722 Phase 3
21 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3
22 S0820, Adenoma and Second Primary Prevention Trial Recruiting NCT01349881 Phase 3
23 PROSPECT: Chemotherapy Alone or Chemotherapy Plus Radiation Therapy in Treating Patients With Locally Advanced Rectal Cancer Undergoing Surgery Recruiting NCT01515787 Phase 2, Phase 3
24 Efficacy Evaluation of TheraSphere Following Failed First Line Chemotherapy in Metastatic Colorectal Cancer Recruiting NCT01483027 Phase 3
25 A Study of the Safety and Efficacy of Etrolizumab in Patients With Moderately to Severely Active Crohn's Disease Recruiting NCT02394028 Phase 3
26 Study for Participants With Ulcerative Colitis Previously Enrolled in Etrolizumab Phase II/III Studies Recruiting NCT02118584 Phase 3
27 Open-Label Extension and Safety Study for Patients With Crohn's Disease Previously Enrolled in the Etrolizumab Phase III Study GA29144 Recruiting NCT02403323 Phase 3
28 Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP) Active, not recruiting NCT01483144 Phase 3
29 Cetuximab and/or Bevacizumab Combined With Combination Chemotherapy in Treating Patients With Metastatic Colorectal Cancer Active, not recruiting NCT00265850 Phase 3
30 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Celecoxib in Treating Patients With Stage III Colon Cancer Previously Treated With Surgery Active, not recruiting NCT01150045 Phase 3
31 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
32 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Not yet recruiting NCT02813824 Phase 3
33 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
34 Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) Terminated NCT00585312 Phase 3
35 Irinotecan and Cetuximab With or Without Bevacizumab in Treating Patients With Metastatic Colorectal Cancer That Progressed During First-Line Therapy Terminated NCT00499369 Phase 3
36 Rosuvastatin in Treating Patients With Stage I or Stage II Colon Cancer That Was Removed By Surgery Terminated NCT01011478 Phase 3
37 Combination Chemotherapy Before or After Surgery in Treating Patients With Colorectal Cancer With Liver Metastases That Could Be Removed By Surgery Terminated NCT01189227 Phase 3
38 Exisulind in Preventing Polyps in Patients With Familial Adenomatous Polyposis Withdrawn NCT00026468 Phase 2, Phase 3
39 A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP) Withdrawn NCT01245816 Phase 3
40 Association of Colorectal Cancer With Nutrition, Diet, Obesity, Diabetes Mellitus, and Genetic Alterations in Taiwan Unknown status NCT00172757 Phase 2
41 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
42 Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis Unknown status NCT00319007 Phase 2
43 The Chemopreventive Effect of Metformin in Patients With Familial Adenomatous Polyposis: Double Blinded Randomized Controlled Study Unknown status NCT01725490 Phase 2
44 A Randomized Controlled Trial of Inquiry Based Stress Reduction (IBSR) Program for Cancer Survivors. Unknown status NCT01795404 Phase 2
45 Curcumin in Treating Patients With Familial Adenomatous Polyposis Completed NCT00641147 Phase 2
46 Erlotinib Hydrochloride in Treating Patients With Stage I-III Colorectal Cancer or Adenoma Completed NCT00754494 Phase 2
47 Cellular Immune Augmentation in Colon and Rectal Cancer Completed NCT00257322 Phase 2
48 ICIBS Trial - Improving Patient Information About Bowel Cancer Screening - a Decision Aid Trial Completed NCT00148226 Phase 2
49 A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients Completed NCT01187901 Phase 2
50 Yoga Cancer Rehabilitation Study: A Randomized Trial of Adaptive Yoga for Older Cancer Survivors Completed NCT01324102 Phase 1, Phase 2

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

Publications for Familial Colorectal Cancer

Articles related to Familial Colorectal Cancer:

(show top 50) (show all 163)
id Title Authors Year
1
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes. ( 27356891 )
2016
2
Evaluation of a Population Based Approach to Familial Colorectal Cancer. ( 27696385 )
2016
3
Familial Colorectal Cancer: Understanding the Alphabet Soup. ( 27582643 )
2016
4
Familial colorectal cancer: Patient assessment, surveillance and surgical management. ( 27546013 )
2016
5
Adenomas as a risk factor in familial colorectal cancer: implications for screening and surveillance in the UK. ( 27207111 )
2016
6
Clinicopathological differences between familial colorectal cancer type X and sporadic cancer in an isolated area of spain. ( 27671100 )
2016
7
Gatekeeper role of gastroenterologists and surgeons in recognising and discussing familial colorectal cancer. ( 26687117 )
2016
8
Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study. ( 27310819 )
2016
9
Decentralized colonoscopic surveillance with high patient compliance prevents hereditary and familial colorectal cancer. ( 26935832 )
2016
10
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. ( 26305882 )
2015
11
Familial colorectal cancer. ( 25955461 )
2015
12
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
13
Survival in familial colorectal cancer: a Danish cohort study. ( 25963853 )
2015
14
Familial colorectal cancer risk may be lower than previously thought: A Danish cohort study. ( 26223561 )
2015
15
Familial colorectal cancer screening: When and what to do? ( 26185367 )
2015
16
Randomized Comparison of Surveillance Intervals in Familial Colorectal Cancer. ( 26527788 )
2015
17
Familial colorectal cancer syndromes: an overview of clinical management. ( 25779305 )
2015
18
Next-generation sequencing for genetic testing of familial colorectal cancer syndromes. ( 26300997 )
2015
19
Hereditary and common familial colorectal cancer: evidence for colorectal screening. ( 25501924 )
2015
20
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer. ( 25992589 )
2015
21
Familial colorectal cancer risk by subsite of primary cancer: a population-based study in Utah. ( 25604623 )
2015
22
Exome sequencing in familial colorectal cancer: searching for needles in haystacks. ( 25075943 )
2014
23
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X. ( 25307848 )
2014
24
Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. ( 25381643 )
2014
25
Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer. ( 24918813 )
2014
26
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
27
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. ( 25058500 )
2014
28
Equivalency of Fecal Immunochemical Tests and Colonoscopy in Familial Colorectal Cancer Screening. ( 25127679 )
2014
29
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X. ( 24115450 )
2014
30
Familial colorectal cancer: a review. ( 25071323 )
2014
31
Familial colorectal cancer type X: genetic profiles and phenotypic features. ( 24743215 )
2014
32
A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer. ( 23901040 )
2014
33
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. ( 24501277 )
2014
34
BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X. ( 24814045 )
2014
35
Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x. ( 23951239 )
2013
36
Quality of life after surgery in individuals with familial colorectal cancer: does extended surgery have an adverse impact? ( 23924343 )
2013
37
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. ( 24127187 )
2013
38
Familial colorectal cancer screening: so close, so far. ( 23347673 )
2013
39
Familial colorectal cancer risk assessment needs improvement for more effective cancer prevention in relatives. ( 23451840 )
2013
40
Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer. ( 23245329 )
2013
41
Eleven candidate susceptibility genes for common familial colorectal cancer. ( 24146633 )
2013
42
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
43
Familial Colorectal Cancer, Beyond Lynch Syndrome. ( 23962553 )
2013
44
Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. ( 22522846 )
2012
45
A review of the genetic background and tumour profiling in familial colorectal cancer. ( 22294773 )
2012
46
Screening for Familial Colorectal Cancer Risk amongst Colonoscopy Patients New to an Open-Access Endoscopy Center. ( 22536519 )
2012
47
Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome. ( 22287689 )
2012
48
Hereditary nonpolyposis colorectal cancer and familial colorectal cancer in Central part of Iran, Isfahan. ( 23248659 )
2012
49
Activating mutation in MET oncogene in familial colorectal cancer. ( 21970370 )
2011
50
Patient and tumor characteristics may raise clinicians' awareness of familial colorectal cancer: a Norwegian population-based study. ( 21679123 )
2011

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-CO2 m.8009G> A single nucleotide variant Pathogenic rs199474826 GRCh37 Chromosome MT, 8009: 8009
2 MT-CO1 m.6264G> A single nucleotide variant Pathogenic rs267606882 GRCh37 Chromosome MT, 6264: 6264
3 MT-CO1 m.6277G> A single nucleotide variant Pathogenic rs281865417 GRCh37 Chromosome MT, 6277: 6277
4 MT-CO1 m.7275T> C single nucleotide variant Pathogenic rs267606884 GRCh37 Chromosome MT, 7275: 7275
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

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 32)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 APC BRAF CDH1 TP53
2
Show member pathways
12.57 APC BRAF CDH1 TP53
3
Show member pathways
12.31 BRAF CDH1 SMAD4 TP53
4 12.3 APC BRAF CDH1 MLH1 MSH2 SMAD4
5
Show member pathways
12.29 APC BRAF TP53
6 12.22 MLH1 MSH2 MUTYH TP53
7 12.21 APC CDH1 TP53
8 12.21 APC SMAD4 TP53
9 12.09 APC CDH1 SMAD4 TP53
10
Show member pathways
12.07 APC BRAF CDH1
11 11.95 APC CDH1 SMAD4
12
Show member pathways
11.89 BRAF SMAD4 TP53
13 11.86 MLH1 MSH2 TP53
14
Show member pathways
11.85 APC BRAF CDH1 MLH1 MSH2 SMAD4
15 11.84 BRAF CDH1 MSH2 SMAD4 TP53
16 11.78 APC SMAD4 TP53
17 11.76 APC BRAF TP53
18 11.74 APC MLH1 MSH2 TP53
19 11.73 BRAF SMAD4 TP53
20 11.53 BRAF CDH1 TP53
21 11.52 MLH1 MSH2 TP53
22 11.38 APC BRAF CDH1 MLH1 MSH2 SMAD4
23 11.36 SMAD4 TP53
24 11.31 MSH2 TP53
25
Show member pathways
11.29 MLH1 MSH2
26 11.26 SMAD4 TP53
27 11.19 APC TP53
28
Show member pathways
11.18 MLH1 MSH2 TP53
29 11.09 APC SMAD4
30 11.07 MLH1 MSH2
31 11.01 BRAF CDH1 TP53
32 10.85 CDH1 SMAD4

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 nucleoplasm GO:0005654 9.43 APC MLH1 MSH2 MUTYH SMAD4 TP53
2 catenin complex GO:0016342 8.62 APC CDH1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.71 APC SMAD4 TP53
2 cell cycle arrest GO:0007050 9.65 APC MSH2 TP53
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.55 MLH1 MSH2
4 base-excision repair GO:0006284 9.52 MUTYH TP53
5 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.51 MSH2 TP53
6 response to X-ray GO:0010165 9.49 MSH2 TP53
7 isotype switching GO:0045190 9.46 MLH1 MSH2
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.43 MLH1 MSH2
9 determination of adult lifespan GO:0008340 9.4 MSH2 TP53
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.37 MLH1 MSH2
11 positive regulation of isotype switching to IgA isotypes GO:0048298 9.32 MLH1 MSH2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MLH1 MSH2
13 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.16 MLH1 MSH2
14 mismatch repair GO:0006298 9.13 MLH1 MSH2 MUTYH
15 cellular response to DNA damage stimulus GO:0006974 9.02 APC MLH1 MSH2 MUTYH TP53

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.67 APC BRAF SMAD4 TP53
2 RNA polymerase II transcription factor binding GO:0001085 9.4 SMAD4 TP53
3 mismatched DNA binding GO:0030983 9.32 MLH1 MSH2
4 gamma-catenin binding GO:0045295 9.26 APC CDH1
5 MutLalpha complex binding GO:0032405 9.16 MSH2 MUTYH
6 MutSalpha complex binding GO:0032407 8.96 MLH1 MUTYH
7 guanine/thymine mispair binding GO:0032137 8.62 MLH1 MSH2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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