NDLI: Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations

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Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations

Acknowledgements

Key word Index Volume 4

Contents Volume 4

Familial Cancer : Volume 4, Issue 3, September 2005

Familial Cancer : Volume 4, Issue 2, June 2005

Familial Cancer : Volume 4, Issue 1, Supplement,March 2005

Familial Cancer : Volume 4, Issue 1, March 2005

Familial Cancer : Volume 3

Familial Cancer : Volume 2

Familial Cancer : Volume 1

Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations

Content Provider	Springer Nature Link
Author	Bandipalliam, Prathap
Copyright Year	2005
Abstract	Hereditary nonpolyposis colon cancer (HNPCC) is the most common hereditary colon cancer syndrome. It is characterized by multiple colon as well as extracolonic cancers such as endometrial, ovarian and urinary tract cancers. In addition, it is well known that some cases of HNPCC can present with unique tumor spectrums such as sebaceous tumors, which is often referred to as the ‘Muir–Torre’ syndrome. In recent years there have been a few reports of families presenting with early onset of colon tumors along with café-au-lait spots and/or hematologic malignancies often associated with homozygous mutations involving one of the mismatch repair genes. In this article we have performed a comprehensive review of the entire medical literature to identify all cases with similar presentations reported in the literature and have summarized the clinical features and genetic test results of the same. The available data clearly highlight such presentations as a distinct clinical entity characterized by early onset of gastrointestinal tumors, hematologic malignancies as well as features of neurofibromatosis (easily remembered by the acronym `CoLoN'; Colon tumors or/and Leukemia/Lymphoma or/and Neurofibromatosis features). Furthermore, there has also been some evidence that the neurofibromatosis type-1 gene is a mutational target of the mismatch repair deficiency that is seen in families with HNPCC, and that mlh1 deficiency can accelerate the development of leukemia in neurofibromatosis (Nf1) heterozygous mice. Recognition of this syndrome has significant importance in terms of earlier detection of cancers, cancer screening recommendations as well as genetic counseling offered to such families.
Starting Page	323
Ending Page	333
Page Count	11
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	4
Issue Number	4
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2005-01-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	hematologic malignancies hereditary nonpolyposis colon cancer mismatch repair gene mutations neurofibromatosis Human Genetics Oncology Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Germline Mutations of the hMLH1 and hMSH2 Mismatch Repair Genes in Belgian Hereditary Nonpolyposis Colon Cancer (HNPCC) Patients

The Incidence of Lynch Syndrome

Are prediction models for Lynch syndrome valid for probands with endometrial cancer?

Frequency of Familial Colon Cancer and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in a Large Population Database

MLH1 and MSH2 Mutations in Colombian Families with Hereditary Nonpolyposis Colorectal Cancer (Lynch syndrome) – Description of Four Novel Mutations

Compliance and Satisfaction with Long-Term Surveillance in Finnish HNPCC Families

Clinical Description of the Lynch Syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)]

Cancer risk in Lynch Syndrome

Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer

Syndrome of Early Onset Colon Cancers, Hematologic Malignancies & Features of Neurofibromatosis in HNPCC Families with Homozygous Mismatch Repair Gene Mutations

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