Format

Send to:

Choose Destination

Links from PubMed

Familial adenomatous polyposis 1(FAP1)

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
Synonyms: APC-Associated Polyposis Conditions; Colon Cancer (APC I1307K related); Familial Adenomatous Polyposis; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; FAP1; POLYPOSIS, ADENOMATOUS INTESTINAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): APC (5q22.2)
OMIM®: 175100

Disease characteristics

Excerpted from the GeneReview: APC-Associated Polyposis Conditions
APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, Gardner syndrome, and Turcot syndrome. FAP is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by a significant risk for colon cancer but fewer colonic polyps (average of 30), more proximally located polyps, and diagnosis of colon cancer at a later age; management may be substantially different. Gardner syndrome is characterized by colonic polyposis typical of FAP together with osteomas and soft tissue tumors. Turcot syndrome is the association of colonic polyposis and central nervous system (CNS) tumors. Differences in phenotype may relate to the location of the pathogenic variant within APC. [from GeneReviews]
Authors:
Kory W Jasperson  |  Randall W Burt   view full author information

Additional descriptions

From OMIM
Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991). Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous Polyposis See also autosomal recessive FAP2 (608456), caused by mutation in the MUTYH gene (604933) on chromosome 1p34, and autosomal recessive FAP3 (616415), caused by mutation in the NTHL1 gene (602656) on chromosome 16p13.  http://www.omim.org/entry/175100
From GHR
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis.  https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis

Clinical features

Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Neoplasm of the colon
MedGen UID:
3165
Concept ID:
C0009375
Neoplastic Process
A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).
Neoplasm of the nervous system
MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
A tumor (abnormal growth of tissue) of the nervous system.
Odontogenic Neoplasm
MedGen UID:
10426
Concept ID:
C0028880
Neoplastic Process
Neoplasms produced from tooth-forming tissues.
Odontoma
MedGen UID:
45181
Concept ID:
C0028882
Neoplastic Process
A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)
Osteoma
MedGen UID:
18220
Concept ID:
C0029440
Neoplastic Process
A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)
Desmoid tumors
MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)
Hepatoblastoma
MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Adrenocortical adenoma
MedGen UID:
61654
Concept ID:
C0206667
Neoplastic Process
Adrenocortical adenomas are benign tumors of the adrenal cortex.
Adrenal Cortex Carcinoma
MedGen UID:
104917
Concept ID:
C0206686
Neoplastic Process
A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Gastric polyposis
MedGen UID:
68629
Concept ID:
C0236048
Disease or Syndrome
A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
Papillary thyroid carcinoma
MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer NMTC2 (188470) is caused by mutation in the SRGAP1 gene (606523). NMTC3 (606240) represents a susceptibility locus mapped to chromosome 2q21. NMTC4 (616534) is caused by mutation in the FOXE1 gene (602617). NMTC5 (616535) is caused by mutation in the HABP2 gene (603924). A susceptibility gene for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p.
Duodenal adenocarcinoma
MedGen UID:
107442
Concept ID:
C0541912
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Duodenal polyposis
MedGen UID:
488924
Concept ID:
C0578477
Neoplastic Process
Presence of multiple polyps in the duodenum.
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Sarcoma
MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute.
Fibroadenoma of the breast
MedGen UID:
488966
Concept ID:
C1328386
Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.
Adenomatous colonic polyposis
MedGen UID:
358118
Concept ID:
C1868071
Finding
Presence of multiple adenomatous polyps in the colon.
Small intestine carcinoid
MedGen UID:
356894
Concept ID:
C1868072
Finding
Adrenocortical adenoma
MedGen UID:
61654
Concept ID:
C0206667
Neoplastic Process
Adrenocortical adenomas are benign tumors of the adrenal cortex.
Adrenal Cortex Carcinoma
MedGen UID:
104917
Concept ID:
C0206686
Neoplastic Process
A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Papillary thyroid carcinoma
MedGen UID:
66773
Concept ID:
C0238463
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer NMTC2 (188470) is caused by mutation in the SRGAP1 gene (606523). NMTC3 (606240) represents a susceptibility locus mapped to chromosome 2q21. NMTC4 (616534) is caused by mutation in the FOXE1 gene (602617). NMTC5 (616535) is caused by mutation in the HABP2 gene (603924). A susceptibility gene for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p.
Small intestine carcinoid
MedGen UID:
356894
Concept ID:
C1868072
Finding
Congenital hypertrophy of retinal pigment epithelium
MedGen UID:
83290
Concept ID:
C0339555
Finding
Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium.
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
Medulloblastoma
MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).
Neoplasm of the nervous system
MedGen UID:
45046
Concept ID:
C0027766
Neoplastic Process
A tumor (abnormal growth of tissue) of the nervous system.
Small intestine carcinoid
MedGen UID:
356894
Concept ID:
C1868072
Finding
Colon cancer
MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Neoplasm of the colon
MedGen UID:
3165
Concept ID:
C0009375
Neoplastic Process
A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.
Desmoid tumors
MedGen UID:
38187
Concept ID:
C0079218
Neoplastic Process
A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)
Hepatoblastoma
MedGen UID:
61644
Concept ID:
C0206624
Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Gastric polyposis
MedGen UID:
68629
Concept ID:
C0236048
Disease or Syndrome
A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
Duodenal adenocarcinoma
MedGen UID:
107442
Concept ID:
C0541912
Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Duodenal polyposis
MedGen UID:
488924
Concept ID:
C0578477
Neoplastic Process
Presence of multiple polyps in the duodenum.
Intestinal polyposis
MedGen UID:
152871
Concept ID:
C0744333
Finding
The presence of multiple polyps in the intestine.
Adenomatous colonic polyposis
MedGen UID:
358118
Concept ID:
C1868071
Finding
Presence of multiple adenomatous polyps in the colon.
Small intestine carcinoid
MedGen UID:
356894
Concept ID:
C1868072
Finding
Osteoma
MedGen UID:
18220
Concept ID:
C0029440
Neoplastic Process
A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
You call it a cavity. Your dentist calls it tooth decay or dental caries. They're all names for a hole in your tooth. The cause of tooth decay is plaque, a sticky substance in your mouth made up mostly of germs. Tooth decay starts in the outer layer, called the enamel. Without a filling, the decay can get deep into the tooth and its nerves and cause a toothache or abscess. To help prevent cavities. -Brush your teeth every day with a fluoride toothpaste. -Clean between your teeth every day with floss or another type of between-the-teeth cleaner. -Snack smart - limit sugary snacks. -See your dentist or oral health professional regularly.
Odontogenic Neoplasm
MedGen UID:
10426
Concept ID:
C0028880
Neoplastic Process
Neoplasms produced from tooth-forming tissues.
Odontoma
MedGen UID:
45181
Concept ID:
C0028882
Neoplastic Process
A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)
Teeth, supernumerary
MedGen UID:
21210
Concept ID:
C0040457
Congenital Abnormality
An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.
Unerupted tooth
MedGen UID:
11856
Concept ID:
C0040458
Finding
The presence of one or more embedded tooth germs which have failed to erupt.
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Keloid formation
MedGen UID:
7197
Concept ID:
C0022548
Acquired Abnormality
Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by Nakashima et al., 2010).
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Epidermoid cysts
MedGen UID:
41829
Concept ID:
C0014511
Anatomical Abnormality
The presence of one or more cysts of the skin.
Keloid formation
MedGen UID:
7197
Concept ID:
C0022548
Acquired Abnormality
Keloid is a dermal fibroproliferative growth caused by pathologic wound healing following skin injury. Keloid is defined as a scar growing continuously and invasively beyond the confines of the original wound and is characterized by excessive fibroblast proliferation and deposition of extracellular matrix and collagen fibers. Local tissue factors, especially wound tension or infection, and endocrine factors are known to be involved in keloid formation. However, the fact that the incidence of keloid is higher in darker-skinned individuals suggests that genetic factors also play an important role (summary by Nakashima et al., 2010).
Hyperpigmentation
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Fibroadenoma of the breast
MedGen UID:
488966
Concept ID:
C1328386
Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.

Term Hierarchy

Professional guidelines

PubMed

Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. [Epub ahead of print] PMID: 25645574Free PMC Article
Stoffel EM, Mangu PB, Gruber SB, Hamilton SR, Kalady MF, Lau MW, Lu KH, Roach N, Limburg PJ; American Society of Clinical Oncology; European Society of Clinical Oncology
J Clin Oncol 2015 Jan 10;33(2):209-17. Epub 2014 Dec 1 doi: 10.1200/JCO.2014.58.1322. [Epub ahead of print] PMID: 25452455
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Genet Med 2014 Jan;16(1):101-16. Epub 2013 Dec 5 doi: 10.1038/gim.2013.166. [Epub ahead of print] PMID: 24310308
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Aretz S, Vasen HF, Olschwang S
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2011.7. [Epub ahead of print] PMID: 21368914Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Church J, Lowry A, Simmang C; Standards Task Force; American Society of Colon and Rectal Surgeons
Dis Colon Rectum 2001 Oct;44(10):1404-12. PMID: 11598466

Recent clinical studies

Etiology

Silva-Velazco J, Hull TL, Stocchi L, Gorgun E
Dis Colon Rectum 2015 Mar;58(3):328-32. doi: 10.1097/DCR.0000000000000264. PMID: 25664711
Geisler D, Garrett T
Tech Coloproctol 2011 Dec;15(4):397-401. Epub 2011 Sep 2 doi: 10.1007/s10151-011-0756-7. [Epub ahead of print] PMID: 21887555
Aaltonen L, Johns L, Järvinen H, Mecklin JP, Houlston R
Clin Cancer Res 2007 Jan 1;13(1):356-61. doi: 10.1158/1078-0432.CCR-06-1256. PMID: 17200375

Diagnosis

Silva-Velazco J, Hull TL, Stocchi L, Gorgun E
Dis Colon Rectum 2015 Mar;58(3):328-32. doi: 10.1097/DCR.0000000000000264. PMID: 25664711
Geisler D, Garrett T
Tech Coloproctol 2011 Dec;15(4):397-401. Epub 2011 Sep 2 doi: 10.1007/s10151-011-0756-7. [Epub ahead of print] PMID: 21887555
Aaltonen L, Johns L, Järvinen H, Mecklin JP, Houlston R
Clin Cancer Res 2007 Jan 1;13(1):356-61. doi: 10.1158/1078-0432.CCR-06-1256. PMID: 17200375

Therapy

Silva-Velazco J, Hull TL, Stocchi L, Gorgun E
Dis Colon Rectum 2015 Mar;58(3):328-32. doi: 10.1097/DCR.0000000000000264. PMID: 25664711

Prognosis

Geisler D, Garrett T
Tech Coloproctol 2011 Dec;15(4):397-401. Epub 2011 Sep 2 doi: 10.1007/s10151-011-0756-7. [Epub ahead of print] PMID: 21887555

Clinical prediction guides

Scappaticci S, Fossati GS, Valenti L, Scabini M, Tateo S, Nastasi G, Spina MP, Capra E
Cancer Genet Cytogenet 1995 Jul 1;82(1):50-3. PMID: 7627934

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...