Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function

Cao, Xiaofeng; Eu, Kong Weng; Kumarasinghe, Marian Priyanthi; Li, H H; Loi, Carol; Cheah, Peh Yean

doi:10.1136/jmg.2005.034827

Cited by 76 publications

(55 citation statements)

References 21 publications

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“…The major gene(s) responsible for hereditary mixed polyposis syndrome have not been identified; however, some cases are caused by mutations in the BMPR1A gene. [88][89][90] Also, a founder mutation involving the GREM1 gene was identified in Ashkenazi Jewish patients with hereditary mixed polyposis syndrome. 91 Referral should be considered for any individual with a personal history of or first-degree relative with ≥10 colorectal polyps with mixed histology.…”

Section: Hereditary Mixed Polyposis Syndrome (Omim 201228 and 610069)mentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

468

326

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Cancer genetic consultation services include the evaluation of patients' personal and family history for concerning features of hereditary cancer predisposition syndromes, development of a differential diagnosis for one or more possible hereditary cancer syndromes, genetic testing if indicated and available, recommendations for management, cancer surveillance and prevention, and information regarding genetic counseling and genetic testing for at-risk relatives. This counseling is informed by the genetic Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. Yet several patient, clinician, and system-level barriers hinder identification of individuals appropriate for cancer genetics referral. Thus, the purpose of this practice guideline is to present a single set of comprehensive personal and family history criteria to facilitate identification and maximize appropriate referral of at-risk individuals for cancer genetic consultation. To develop this guideline, a literature search for hereditary cancer susceptibility syndromes was conducted using PubMed. In addition, GeneReviews and the National Comprehensive Cancer Network guidelines were reviewed when applicable. When conflicting guidelines were identified, the evidence was ranked as follows: position papers from national and professional organizations ranked highest, followed by consortium guidelines, and then peerreviewed publications from single institutions. The criteria for cancer genetic consultation referral are provided in two formats: (i) tables that list the tumor type along with the criteria that, if met, would warrant a referral for a cancer genetic consultation and (ii) an alphabetical list of the syndromes, including a brief summary of each and the rationale for the referral criteria that were selected. Consider referral for a cancer genetic consultation if your patient or any of their firstdegree relatives meet any of these referral criteria.

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Section: Hereditary Mixed Polyposis Syndrome (Omim 201228 and 610069)mentioning

confidence: 99%

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Hampel

Bennett

Buchanan

et al. 2015

Genetics in Medicine

468

326

View full text Add to dashboard Cite

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“…Up to 39% of patients with JPS will develop CRC in their lifetime, at a mean age of 44 years [58]. In at least some patients, a BMPR1A mutation instead leads to hereditary mixed polyposis syndrome, an autosomal dominant disorder causing a wide variety of colonic polyps to develop [59]. In other patients, this syndrome arises due to a SCG5 mutation [60].…”

Section: Hamartomatous Polyposis Syndromesmentioning

confidence: 99%

Current applications of molecular pathology in colorectal carcinoma

2017

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Molecular pathology is playing an increasingly important role in the treatment and overall management of patients with colorectal carcinoma. Three distinct genetic pathways have been identified that play a role in carcinogenesis: the chromosomal instability pathway, the microsatellite instability pathway, and the CpG island methylator phenotype pathway. Certain genetic mutations, some of which overlap with the aforementioned pathways, can also indicate that a carcinoma patient has a genetic predisposition syndrome, such as familial adenomatous polyposis, Lynch syndrome, and hamartomatous polyposis syndromes. A variety of advanced methods, including next-generation sequencing, are available to test for these and other mutations, such as targetable mutations that may allow tailoring of a treatment regimen to a patient's specific cancer (e.g., KRAS and BRAF mutations). The possible future role of testing circulating tumor cells is also addressed. New mutations and syndromes continue to be discovered, ensuring that our knowledge of colorectal carcinoma and our ability to treat it will advance in the future.

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“…Other potential gene loci have been noted, namely, on chromosomes 15q13-14 (Jaeger et al 2003) and 10q23 (Cao et al 2006), although the latter might represent a variant of juvenile polyposis since loss of BMPR1A function was noted in one of the families. Thus, in the consideration of this syndrome, it would appear that the clinical features and types of polyps are important to define, and more studies are needed to establish the genetic underpinnings.…”

Section: Other Hamartomatous Polyposis Syndromesmentioning

confidence: 99%

The genetics of hereditary colon cancer

Rustgi¹

2007

Genes Dev.

456

290

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The genetic basis of sporadic colorectal cancer has illuminated our knowledge of human cancer genetics. This has been facilitated and catalyzed by an appreciation and deep understanding of the forms of colorectal cancer that harbor an inherited predisposition, including familial adenomatous polyposis (FAP), hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, the hamartomatous polyposis syndromes, and certain other rare syndromes. Identification of germline mutations in pivotal genes underlying the inherited forms of colorectal cancer has yielded many dividends, including functional dissection of critical molecular pathways that have been revealed to be important in development, cellular homeostasis, and cancer; new approaches in chemoprevention, molecular diagnostics and genetic testing, and therapy; and underscoring genotypic-phenotypic relationships.

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Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function

Abstract: Our results indicate that BMPR1A mutation accounts for HMPS. The data suggest that inactivating BMPR1A can initiate colorectal tumourigenesis via the mixed polyposis-carcinoma sequence.

Cited by 76 publications

References 21 publications

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Current applications of molecular pathology in colorectal carcinoma

The genetics of hereditary colon cancer

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