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At least 19 recordsLinked to original sources
PubMed1989

Depressed level of natural killer cells in cancer family syndrome.

Individuals from kindred with cancer family syndrome (CFS) have an increased genetic risk for the development of adenocarcinoma of the colon as well as of several other organs. Previous studies have suggested that this high occurrence of adenocarcinoma in this as in other hereditary neoplastic syndromes may be correlated to an underlying abnormality in immunological tumor surveillance. In attempt to define a marker that might identify individuals within CFS kindred at risk of developing cancer, we determined natural killer (NK) cell number and NK cell function in affected and healthy members of a CFS family. We studied 13 cancer-affected patients, 20 unaffected but "at-risk" subjects, 20 healthy subjects and 26 normal individuals matched to the patients with colon cancer on the basis of sex and age. We determined the number of NK cells and their function concurrently, using a monoclonal antibody and a 51Cr-release assay with K562 as target cells. We found that the number of NK cells was significantly (P = 0.00004) reduced in cancer patients as compared with healthy subjects and normal controls. Of the 20 at-risk individuals 9 had levels lower than the norm, while 11 showed normal-values. Consequently, the mean percentage of NK cells of this group does not differ either from that of normal subjects or from that of cancer patients. Mean NK cell function was lower in cancer patients than in healthy members of the CFS family but the differences were not statistically significant. Therefore, the mean NK cell function per single cell, expressed as a ratio between cytotoxicity (LU) and the number of NK1-positive cells, resulted paradoxically in an increase when compared with that of normal subjects. The possible mechanisms for this dichotomy were examined.

Adolescent↗
PubMedDate not supplied

Hypocalcemia: a rare complication of von Hippel-Lindau disease.

von Hippel-Lindau disease is a hereditary neoplastic syndrome, characterized by malignant and benign lesions in multiple organs. Pancreatic involvement is very common and is in general asymptomatic. We describe a case of malabsorption with severe hypocalcemia in a patient with von Hippel-Lindau disease, caused by exocrine pancreatic insufficiency, probably due to severe cystic transformation of the pancreas.

Aged↗
PubMed1987

Von Hippel-Lindau disease in an adolescent.

Von Hippel-Lindau disease is a hereditary neoplastic syndrome that generally manifests in early adulthood but does present occasionally in adolescence. In the past, diagnosis and management of this disorder fell within the domain of internists and surgeons. Because pediatricians are now seeing older patients, they must learn to recognize the various components of this disorder. Additionally, they must be able to assure appropriate medical evaluation and follow-up and also arrange for genetic counseling. Pediatricians already attuned to the benefits of preventive medicine should find themselves uniquely qualified to provide the level of care that this disease requires.

Abdomen↗
PubMed1990

[Groups at risk for colorectal tumors].

Genetic and environmental factors are involved in the development of colorectal cancer. The most important prognostic factor is the pathological stage at the time of diagnosis. Therefore it is called for early detection, screening for colorectal cancer, and definition of risk groups. High risk groups are familial polyposis coli, ulcerative colitis, cancer family syndrome, ureterosigmoidostomy, colorectal adenomas, and after resection of colorectal cancer. For these groups a lifelong follow-up and treatment is necessary. But groups with lower risk (Crohn's disease, breast cancer, endometrial cancer, colorectal cancer within the family, gastric polyps, and partial gastrectomy in benign ulcer) need attention too. Colonoscopy with biopsy is one of the most important techniques during follow-up of these patients.

Adenomatous Polyposis Coli↗
PubMed1996

[Effect of molecular diagnostic procedures on surgical therapy of malignant diseases].

In the past molecular biological techniques have provided the basis for principally new aspects in the diagnosis of neoplastic diseases. The genetic predisposition to hereditary cancer syndromes can be detected by germ line DNA sequence analysis and offers the opportunity for prophylactic surgery. Some preneoplastic lesions can be detected through the identification of specific molecular alterations in nucleic acid preparations derived from various clinical samples. Residual or disseminated tumor cells can be detected in resection margins, lymph nodes, bone marrow, or peripheral blood with great sensitivity. Most likely, these techniques will strongly influence cancer screening programs and provide a rational basis for adjuvant systemic or regional therapy modalities. However, the clinical value of these techniques has not yet been proven in controlled trials. The problems of reproducibility and quality assurance have to be addressed and solved. This review summarizes the basic principles of some of these new molecular diagnostic techniques to permit a critical assessment of their clinical implications.

Cell Transformation, Neoplastic↗
PubMed2004

Molecular basis and diagnostics of hereditary colorectal cancers.

Hereditary colorectal cancer syndromes are classified according to the presence of unusually large number of adenomatous or hamartomatous polyps, or their absence. The latter category includes hereditary non-polyposis colorectal cancer (Lynch syndrome) and its variants Muir-Torre and Turcot's syndromes. Adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and its variants, and the recently identified MYH- (mutY homolog)-associated polyposis. Hamartomatous polyposis syndromes include juvenile polyposis, Peutz-Jeghers syndrome, and Cowden syndrome, which is now included within the broader category 'PTEN (phosphatase and tensin homolog) hamartoma tumour syndrome'. Other syndromes such as the 'hereditary breast and colon cancer' and 'familial colorectal cancer' are not yet fully characterized. This review addresses the molecular basis of these syndromes with particular reference to the recent advances in this rapidly progressive field and the applications of such knowledge in diagnosis and management.

Adenomatous Polyposis Coli↗
PubMed1988

Familial cancer. A review on hereditary cancer traits with special regard to colorectal carcinoma.

Substantial evidence supports the two-step mutation hypothesis by Knudson in human carcinogenesis. In inherited cancer traits the first mutation is thought to be inherited, but this oncogene acts recessively, and the cancer develops only after a second mutation, where the normal allele of this gene, the anti-oncogene, is lost. The most recent discovery in the field of inherited cancer diseases, is localization of the gene for adenomatous polyposis on chromosome 5. Inherited cancer traits may occur in greater frequency than was previously known. One example is the cancer family syndrome (CFS), where colorectal carcinoma is transmitted in an autosomal dominant mode. Clinical characteristics of CFS include early age of onset (mean about 40 years), high risk of metachronous colon tumours (32 to 54% in 10 years) and proximal predilection of the colon tumours. The frequency of CFS is at least 5% of all colorectal carcinomas, and this trait may present one opportunity for cancer screening programmes like familial adenomatous polyposis. Identification of CFS patients remains a problem even when careful family history is taken, and a specific biomarker for CFS is urgently needed.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed2006

Clinical implications of our advancing knowledge of colorectal cancer genetics: inherited syndromes, prognosis, prevention, screening and therapeutics.

Recent genetic advances in our knowledge of colorectal cancer genetics are beginning to pay translational dividends in the management of this common clinical problem. We are now able to accurately screen and counsel individuals at risk of rare inherited cancer syndromes. We have recently introduced two of what are sure to be numerous biologic-based therapies, and have shown that colorectal neoplasia risk can be modestly reduced by various chemopreventative agents. Finally, our advancing knowledge has led to significant inroads into understanding what genetic alterations define prognosis and predict response to specific chemotherapeutic agents, and we are beginning to explore the utility of this knowledge in mass genetic-based clinical screening efforts. Enthusiasm must be tempered, however, by the extraordinary cost that often accompanies relatively modest gains. Finally, although genetic-based therapy often receives the greatest attention, molecular genetics, will likely have the greatest cost-effective impact in primary prevention and early diagnosis.

Adenomatous Polyposis Coli↗
PubMed2005

Evolution of the nomenclature for the hereditary colorectal cancer syndromes.

The hereditary forms of colorectal cancer have been given many names historically as the manifestations have been gradually understood. Lynch syndrome has had several names, most prominently 'Hereditary Nonpolyposis Colorectal Cancer' or HNPCC. Clarification of the genetic basis and full phenotypic expression of this disease mandates a more clinically useful name that clarifies the consideration of non-colonic cancers in a family history, and unifies the diagnosis around the germline mutation in a DNA mismatch repair (MMR) gene. The term 'Lynch syndrome' is proposed for the autosomal dominant disease caused by a germline mutation in a DNA MMR gene.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed2002

Molecular and genetic defects in colorectal tumorigenesis.

Colorectal cancers, whether sporadic or hereditary, are caused by a defined set of molecular events. There are at least two different pathogenetic pathways for colorectal cancer: the chromosomal instability pathway and the microsatellite instability pathway; the two major inherited syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), are examples of these two mechanisms. These different pathways, however, converge on common pathological entities that have crucial functions in the regulation of normal crypt homeostasis. Preventive strategies aimed at reversing these changes, or therapeutic interventions targeting cell populations with these alterations, should be most efficacious. Genetic testing for inherited syndromes is now available and allows appropriate management of these disorders. Further insight into colorectal tumorigenesis pathways can lead to the development of useful prognostic indicators and target preventive and therapeutic strategies in the management of colorectal cancer.

Adenomatous Polyposis Coli↗
PubMed1999

Hereditary colorectal cancer.

The question, "Is cancer hereditary?" has been answered beyond any doubt through the discovery of germ-line cancer-causing mutations in a subset of colorectal cancers (CRCs). Clearly, this authentication of the role of genetics was not solely dependent on molecular genetic studies, since hereditary cancer syndromes such as familial adenomatous polyposis (FAP) had been known for at least 100 years, but molecular advances are clarifying and refining clinical impressions. Have clinicians acted on the importance of hereditary factors in cancer so that this knowledge might be translated into patient benefit? Data showing that 59% of patients with FAP still die of metastatic CRC suggest that the answer is no.

Adenomatous Polyposis Coli↗
PubMed1999

Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management.

HYPOTHESIS: Advancements in molecular genetics has direct impact on the evaluation and management of patients and family members with familial paragangliomas (FP). BACKGROUND: Familial paragangliomas. in contrast to sporadic cases, are commonly multiple, bilateral, and present at an earlier age. Familial tumors are inherited in an autosomal dominant pattern with genomic imprinting of the paternal allele. Mapping studies have identified regions on chromosome 11q as harboring the genetic defect responsible for paraganglioma formation. METHODS: A multigenerational family with five affected females with head and neck paragangliomas underwent clinical and genetic evaluation. Genetic mapping was performed with microsatellite markers froin chromosome 11q13 and q23. Nonaffected individuals were screened for carrying the affected haplotype. In addition, by using DNA obtained from an amniotic fluid sample. in utero screening of a fetus was performed. RESULTS: The most common complaints were hearing loss and neck masses that usually manifested by age 25. Genetic mapping identified loci 11q13 and q23 as sites likely responsible for tumorogenesis. Three unaffected family members, including a fetus, were identified as carriers of the affected haplotype. The genetic findings were used to design a screening protocol for family members at risk for developing glomus tumors. CONCLUSIONS: Genetic screening of unaffected family members can identify individuals harboring the mutated allele. Identification of family members at risk for developing FP by molecular genetic techniques may lead to early detection of head and neck paragangliomas and may directly impact morbidity from glomus tumors and their treatment.

Adult↗
PubMed1995

Hereditary cancer in adults.

Primary genetic factors play a major etiologic role in approximately 5% to 10% of the total cancer burden. Since the bulk of hereditary forms of cancer lack premonitory physical stigmata of cancer risk, a well-orchestrated family history is mandatory for establishing a hereditary cancer syndrome diagnosis. Knowledge of the natural history of the particular hereditary form of cancer will aid the physician in the development and implementation of highly targeted surveillance strategies. Indeed, specific natural history features of cancer, particularly early age onset and multiple primary cancer excess, characterize the more than 200 mendelian inherited cancer syndromes. The veritable explosive developments in molecular biology now enable the identification of germline mutations so that, in certain hereditary cancers, a simple blood test will enable the physician to determine the cancer destiny of patients carrying the particular germline mutation.

Adenomatous Polyposis Coli↗