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Article ; Online: Hereditary colorectal cancer: more common than you think.

Jasperson, Kory W

2014 Volume 38, Issue 6, Page(s) 249–261

MeSH term(s)	Adult ; Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/genetics ; Early Detection of Cancer/methods ; Female ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Humans ; Male ; Mass Screening/methods ; Middle Aged ; Mutation ; Neoplasm Proteins/genetics ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/genetics ; Risk Assessment/methods
Chemical Substances	Neoplasm Proteins
Language	English
Publishing date	2014-11
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	441816-5
ISSN	1535-6345 ; 0147-0272
ISSN (online)	1535-6345
ISSN	0147-0272
DOI	10.1016/j.currproblcancer.2014.10.005
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Article ; Online: Genetic testing by cancer site: colon (polyposis syndromes).

Jasperson, Kory W

Cancer journal (Sudbury, Mass.)

2012 Volume 18, Issue 4, Page(s) 328–333

Abstract: Hereditary colonic polyposis conditions are all characterized by high rates of cancer, but they have diverse phenotypes, genetic heterogeneity, and assorted inheritance patterns. The most well known of these conditions include familial adenomatous ... ...

Abstract	Hereditary colonic polyposis conditions are all characterized by high rates of cancer, but they have diverse phenotypes, genetic heterogeneity, and assorted inheritance patterns. The most well known of these conditions include familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH (MutY human homolog)-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. Early recognition of these conditions is not only vital for management in affected individuals, but also for prevention and early detection in at-risk relatives. Reviewed here are the genetic testing strategies for colonic polyposis, as well as an overview of characteristic features and management considerations for these syndromes.
MeSH term(s)	Adenomatous Polyposis Coli/genetics ; Colonic Neoplasms/diagnosis ; Colonic Neoplasms/genetics ; Genetic Counseling ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Peutz-Jeghers Syndrome/genetics
Language	English
Publishing date	2012-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2018400-1
ISSN	1540-336X ; 1528-9117 ; 1081-4442
ISSN (online)	1540-336X
ISSN	1528-9117 ; 1081-4442
DOI	10.1097/PPO.0b013e3182609300
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Article ; Online: The Genetics of Colorectal Cancer.

Jasperson, Kory / Burt, Randall W

Surgical oncology clinics of North America

2015 Volume 24, Issue 4, Page(s) 683–703

Abstract: The hereditary colorectal cancer syndromes comprise a heterogeneous group of conditions with varying cancer risks, gastrointestinal polyp types, nonmalignant findings, and inheritance patterns. Although each one is unique in its own right, these ... ...

Abstract	The hereditary colorectal cancer syndromes comprise a heterogeneous group of conditions with varying cancer risks, gastrointestinal polyp types, nonmalignant findings, and inheritance patterns. Although each one is unique in its own right, these syndromes often have overlapping features, making diagnoses difficult in select cases. Obtaining accurate polyp history (histologic type, number, location, and age of onset), cancer history (location, type, and age of onset), and other nonmalignant features is imperative in determining the likely disease diagnosis and thereby the appropriate genetic tests for precise diagnosis in a timely fashion. This process often necessitates collaboration among surgical oncology team members and genetic counselors.
MeSH term(s)	Colorectal Neoplasms/diagnosis ; Colorectal Neoplasms/genetics ; Genetic Testing ; Humans ; Risk Factors
Language	English
Publishing date	2015-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1196919-2
ISSN	1558-5042 ; 1055-3207
ISSN (online)	1558-5042
ISSN	1055-3207
DOI	10.1016/j.soc.2015.06.006
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Article ; Online: Hereditary and common familial colorectal cancer: evidence for colorectal screening.

Samadder, N Jewel / Jasperson, Kory / Burt, Randall W

Digestive diseases and sciences

2015 Volume 60, Issue 3, Page(s) 734–747

Abstract: Colorectal cancer (CRC) is the fourth most common cancer among men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis and ... ...

Abstract	Colorectal cancer (CRC) is the fourth most common cancer among men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis and several hamartomatous conditions. Up to 30% of CRC cases exhibit common familial risk, likely related to a combination of inherited factors and environment. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This article examines the colon cancer syndromes, their genetic basis, clinical management and evidence supporting colorectal screening. It also deals with the category of common (non-syndromic) familial risk including risk determination and screening guidelines.
MeSH term(s)	Adenomatous Polyposis Coli/diagnosis ; Adenomatous Polyposis Coli/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; DNA Glycosylases/genetics ; Humans ; Mass Screening ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics
Chemical Substances	DNA Glycosylases (EC 3.2.2.-) ; mutY adenine glycosylase (EC 3.2.2.-)
Language	English
Publishing date	2015-03
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	304250-9
ISSN	1573-2568 ; 0163-2116
ISSN (online)	1573-2568
ISSN	0163-2116
DOI	10.1007/s10620-014-3465-z
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Article ; Online: A pain in the neck and colon polyps.

Samadder, N Jewel / Jasperson, Kory / Burt, Randall W

Gastroenterology

2012 Volume 142, Issue 5, Page(s) 1073, 1259

MeSH term(s)	Adult ; Colonic Polyps/etiology ; Gardner Syndrome/diagnosis ; Humans ; Male ; Neck Pain/etiology
Language	English
Publishing date	2012-05
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2011.11.047
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Article ; Online: Colon Pathology Characteristics in Li-Fraumeni Syndrome.

Rengifo-Cam, William / Shepherd, Hailey M / Jasperson, Kory W / Samadder, N Jewel / Samowitz, Wade / Tripp, Sheryl R / Schiffman, Joshua D / Kohlmann, Wendy

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

2017 Volume 16, Issue 1, Page(s) 140–141

MeSH term(s)	Adolescent ; Adult ; Child ; Colorectal Neoplasms/pathology ; Female ; Humans ; Li-Fraumeni Syndrome/pathology ; Male ; Middle Aged ; Mutation ; Tumor Suppressor Protein p53/genetics ; Young Adult
Chemical Substances	TP53 protein, human ; Tumor Suppressor Protein p53
Language	English
Publishing date	2017-06-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2119789-1
ISSN	1542-7714 ; 1542-3565
ISSN (online)	1542-7714
ISSN	1542-3565
DOI	10.1016/j.cgh.2017.06.017
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Article ; Online: Gastrointestinal Polyposis in Cowden Syndrome.

Shaco-Levy, Ruthy / Jasperson, Kory W / Martin, Katie / Samadder, N J / Burt, Randall W / Ying, Jian / Bronner, Mary P

Journal of clinical gastroenterology

2017 Volume 51, Issue 7, Page(s) e60–e67

Abstract: Goals: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome.: Background: The gastrointestinal manifestations of Cowden Syndrome, an important ... ...

Abstract	Goals: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. Background: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. Study: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review. Results: Of 19 total patients, genetic testing revealed pathogenic PTEN mutations in 12. Pan-colonic (11-patients, 58%) and pan-gastrointestinal (8-patients, 42%) polyp distributions were common. Inflammatory (juvenile) polyps were the most common of the hamartomatous polyp (18 patients, 95%), along with expansive lymphoid follicle polyps (12 patients, 63%), ganglioneuromatous polyps (10 patients, 53%), and intramucosal lipomas (5 patients, 26%). The findings of 2 or more hamartomatous polyp types per patient emerged as a newly described and highly prevalent (79%) feature of Cowden syndrome. Ganglioneuromatous polyps, rare in the general population, and intramucosal lipomas, which may be unique to Cowden syndrome, should both prompt further evaluation. Colonic adenomas and adenocarcinomas were common; 10 patients (53%) had single and 3 (16%) had ≥3 adenomas, whereas 2 (11%) had colonic adenocarcinoma, strengthening the emerging association of colorectal cancer with Cowden syndrome. Conclusions: The clinical phenotypes and gastrointestinal manifestations in Cowden syndrome are quite variable but this series adds the following new considerations for this syndromic diagnosis: multiple gastrointestinal hamartomas, especially 2 or more hamartoma types, and any intramucosal lipomas or ganglioneuromas. These features should warrant consideration of Cowden syndrome.
Language	English
Publishing date	2017-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	448460-5
ISSN	1539-2031 ; 0192-0790
ISSN (online)	1539-2031
ISSN	0192-0790
DOI	10.1097/MCG.0000000000000703
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Article ; Online: Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.

Shaco-Levy, Ruthy / Jasperson, Kory W / Martin, Katie / Samadder, N Jewel / Burt, Randall W / Ying, Jian / Bronner, Mary P

Human pathology

2016 Volume 49, Page(s) 39–48

Abstract: The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many ... ...

Abstract	The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many histologic features for every polyp. The study included 15 Cowden syndrome, 13 Peutz-Jeghers (PJS), 12 juvenile polyposis (JuvPS) patients, and 32 cases of sporadic hamartomatous polyps. A total of 375 polyps were examined. Cowden syndrome polyps were characteristically colonic, sessile, small, without surface erosion, and showing mildly inflamed fibrotic lamina propria with smooth muscle proliferation and lymphoid follicles. They showed the least degree of cystic glands and had no thick mucin. Uncommon but specific features were ganglion cells and nerve fibers within the lamina propria and mucosal fat. PJS polyps were typically of small or large bowel origin, often exophytic, seldom eroded, with inflamed edematous and fibrotic lamina propria and dilated cystic glands filled with often thick mucin. All PJS polyps showed smooth muscle proliferation, frequently widespread. The polyps of JuvPS were typically colonic, large, exophytic, eroded, with strikingly edematous, fibrotic markedly inflamed lamina propria, cystic glands filled with frequently thick mucin, and the least degree of smooth muscle proliferation. Nonsyndromic hamartomatous polyps were similar to JuvPS polyps; however, they were more often colonic, were smaller, showed more widespread smooth muscle proliferation, and were less likely to contain thick mucin. In conclusion, we were able to define the characteristic hamartomatous polyp for each hamartomatous polyposis syndrome. Awareness to these features may aid in the diagnosis of these rare syndromes.
MeSH term(s)	Biomarkers, Tumor/analysis ; Biomarkers, Tumor/genetics ; Biopsy ; Cell Proliferation ; Colonic Polyps/chemistry ; Colonic Polyps/pathology ; Diagnosis, Differential ; Genetic Testing ; Hamartoma Syndrome, Multiple/genetics ; Hamartoma Syndrome, Multiple/metabolism ; Hamartoma Syndrome, Multiple/pathology ; Humans ; Intestinal Polyposis/congenital ; Intestinal Polyposis/genetics ; Intestinal Polyposis/metabolism ; Intestinal Polyposis/pathology ; Mucins/analysis ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/metabolism ; Neoplastic Syndromes, Hereditary/pathology ; Peutz-Jeghers Syndrome/genetics ; Peutz-Jeghers Syndrome/metabolism ; Peutz-Jeghers Syndrome/pathology ; Predictive Value of Tests ; Registries ; Utah
Chemical Substances	Biomarkers, Tumor ; Mucins
Language	English
Publishing date	2016-03
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2015.10.002
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Article ; Online: Hereditary and familial colon cancer.

Jasperson, Kory W / Tuohy, Thérèse M / Neklason, Deborah W / Burt, Randall W

Gastroenterology

2010 Volume 138, Issue 6, Page(s) 2044–2058

Abstract: Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with ... ...

Abstract	Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Clarification of predisposing genes allows for accurate risk assessment and more precise screening approaches. This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.
MeSH term(s)	Adenomatous Polyposis Coli/genetics ; Animals ; Colonic Neoplasms/diagnosis ; Colonic Neoplasms/genetics ; Colonic Neoplasms/prevention & control ; Colonic Neoplasms/therapy ; Colonoscopy ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Genetic Testing ; Heredity ; Humans ; Mass Screening/methods ; Pedigree ; Peutz-Jeghers Syndrome/genetics ; Phenotype ; Predictive Value of Tests ; Risk Assessment ; Risk Factors
Language	English
Publishing date	2010-04-24
Publishing country	United States
Document type	Journal Article ; Portrait ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2010.01.054
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Article ; Online: Hamartomatous polyposis syndromes.

Gammon, Amanda / Jasperson, Kory / Kohlmann, Wendy / Burt, Randall W

Best practice & research. Clinical gastroenterology

2009 Volume 23, Issue 2, Page(s) 219–231

Abstract: Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp ... ...

Abstract	Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis are necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumour syndrome, and juvenile polyposis will be presented in this review.
MeSH term(s)	Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Genetic Testing ; Hamartoma Syndrome, Multiple/diagnosis ; Hamartoma Syndrome, Multiple/genetics ; Humans ; Mutation ; Peutz-Jeghers Syndrome/diagnosis ; Peutz-Jeghers Syndrome/genetics ; Phenotype ; Predictive Value of Tests
Language	English
Publishing date	2009-05-03
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2048181-0
ISSN	1532-1916 ; 1521-6918
ISSN (online)	1532-1916
ISSN	1521-6918
DOI	10.1016/j.bpg.2009.02.007
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