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PubMed2006

Non-Hodgkin's lymphoma as an exemplar of the effects of genetics and genomics.

PURPOSE: To discuss the interface of genetics and genomics science in the identification and management of non-Hodgkin's lymphoma. The field of oncology is an exemplar of how the genomic revolution is influencing more individualized care and treatment of people with cancer and their families. DESIGN: Integrated review of the cancer genetics and genomics literature. METHODS: Published peer-reviewed research, conference proceedings, and peer-reviewed internet sites regarding the genetics and genomics of cancer and non-Hodgkin's lymphoma were reviewed, analyzed, and data synthesized. FINDINGS: All malignancies have a genetic and genomic basis. Genetic and genomic break-throughs are rapidly being applied to all aspects of cancer care including: (a) identification of at-risk individuals before disease occurs, (b) diagnosis and characterization of disease and its aggressiveness when it appears via gene expression, (c) and individualization of therapies over the disease course based on these new molecular technologies. CONCLUSIONS: Oncology nurses in every role, clinical subspecialty, and type of education are among the first nurses to integrate genetic and genomic information in such a broad context. This experience shows how genetic and genomic discoveries will interface with other health conditions and ultimately, will affect the practice of all nurses.

Biomarkers, Tumor↗
PubMed1993

Nobel's day on recent advances in cancer research.

The June 7-10th Symposium on 'Recent Advances in Cancer Research', organized by Lorenzo Moretta in San Remo, Italy, on the occasion of Nobel's day, designated cancer genetics and tumor immunology as forefront areas in fundamental cancer research. While the central importance of oncogenes is obvious, this is less the case for the immunology of tumors, which has long been an area of descriptive phenomenology, wild speculation and unfulfilled expectation. The recent molecular identification of genes encoding a human melanoma antigen recognized by T cells, and of cytokines involved in the tumor-host interaction justifies renewed oncological interest in this area.

Antigens, Neoplasm↗
PubMed2006

Cancer risk assessment and genetics at the Helen F. Graham Cancer Center: model for personalized medicine and early intervention.

This article discusses cancer risk assessment, screening options, referral guidelines, and the experience of the Familial Risk Assessment Program at the Helen F. Graham Cancer Center. Two clinical situations are described that illustrate the impact of genetics in the multidisciplinary approach to managing cancer. Identifying risk level in patients will impact mortality in those at high risk, as well as psychosocial well-being in those at low risk.

Adult↗
PubMed1987

Prince Takamatsu memorial lecture. Rare cancers: clues to genetic mechanisms.

Virtually every kind of cancer can occur in hereditary form. Such hereditary cancers are rare, but have been informative out of proportion to their frequencies because some of them have illuminated mechanisms important in the genesis of cancer generally. The prototypes of hereditary cancer have been two uncommon tumors, retinoblastoma and Wilms' tumor. Genetic epidemiologic analysis of these tumors led to the formulation of a model for their origin following two events. According to this model the first event could already be present in the germline, thereby giving rise to the heritable forms of these diseases; the second event would occur somatically in one or more cells of the relevant organ. Both events would occur somatically in the non-hereditary form. It was proposed that the two events involved mutation or loss of both copies of a particular gene; i.e., these genes are recessive in oncogenesis. Cytogenetic analyses of rare deletion cases of retinoblastoma permitted the localization of the retinoblastoma gene to chromosomal band 13q14. Deletion was also proposed as the mechanism for the rare conjunction of Wilms' tumor and aniridia; deletions of chromosomal band 11p13 were subsequently found. Deletions were also found in tumor cells of some patients with the non-hereditary forms of these two tumors, lending support to the idea that the same loci were involved in the two forms. The application of molecular genetic techniques led to verification of the recessive hypothesis for both retinoblastoma and Wilms' tumor and to the cloning of the gene of the former. These accomplishments are leading to a new understanding of mechanisms of oncogenesis and their involvement even in the common cancers of adults.

Child↗
PubMed2005

Hereditary cancer predisposition syndromes.

Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted efforts in cancer surveillance and prevention. While these individuals comprise a small proportion of the overall burden of cancer, strategies successful in reducing their remarkable cancer risks may be generalizable to the broader population. In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided.

Breast Neoplasms↗
PubMed2005

Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from the European prospective investigation into cancer and nutrition study.

Insulin-like growth factor-I (IGF-I) stimulates cell proliferation and can enhance the development of tumors in different organs. Epidemiologic studies have shown that an elevated level of circulating IGF-I is associated to increased risk of breast cancer as well as other cancers. Genetic variants affecting the release or biological action of growth hormone (GH), the main stimulator of IGF-I production, may predict circulating levels of IGF-I and have an effect on cancer risk. We tested this hypothesis with a large case-control study of 807 breast cancer patients and 1,588 matched control subjects nested within the European Prospective Investigation into Cancer and Nutrition. We genotyped 22 common single nucleotide polymorphisms in 10 genes involved in GH production and action (GHRH, GHRHR, SST, SSTR1-SSTR5, POU1F1, and GH1), and in parallel, we measured serum levels of IGF-I and IGFBP-3, its major binding protein, in samples of cases and controls. SST and SSTR2 polymorphisms showed weak but statistically significant associations with breast cancer risk. SSTR5 polymorphisms were associated with IGF-I levels, whereas one polymorphism in GHRHR and one in POU1F1 were associated with IGFBP-3 levels. Our conclusion is that common genetic variation in the GH synthesis pathway, as measured by single nucleotide polymorphisms selected in the present study, is not a major determinant of IGF-I and IGFBP-3 circulating levels, and it does not play a major role in altering breast cancer risk.

Adult↗
PubMed1987

Genetic markers of colonic neoplasia.

Adenomas and polyposis syndromes can be viewed as stages preceding the development of colonic cancer. Genetic markers of these stages have potential value in diagnosis and in investigation of biological mechanisms and consequences of cancer-predisposing genes. No reliable markers for premalignant states are yet available, but unambiguous gene markers for familial polyposis will probably be identified in the near future. They will clarify relationships among the hereditary colon cancer syndromes and possibly help to define the sequence of malignant transformation in sporadic cancers as well.

Adenomatous Polyposis Coli↗
PubMed2003

Gene expression profile of normal lungs predicts genetic predisposition to lung cancer in mice.

Genetic susceptibility to lung tumorigenesis shows large variations among mouse strains. To test whether genetic predisposition to lung tumorigenesis is associated with a specific gene expression profile in normal lungs, we analyzed gene expression in 16 inbred strains of known susceptibility/resistance to lung tumorigenesis, using the RIKEN mouse full-length cDNA 19K microarray set. The strain-specific expression profile of 91 cDNA clones correlated with strain lung tumor susceptibility/resistance and predicted, by principal component analysis, the genetic predisposition to lung tumorigenesis in mice.

Animals↗
PubMed1997

Predictive value of genetic diagnosis for cancer micrometastasis: histologic and experimental appraisal.

BACKGROUND: The recently introduced genetic diagnosis of cancer micrometastasis is quite attractive because of its high detection sensitivity. Not infrequently, however, there are marked discrepancies between genetic and conventional histologic diagnoses, especially concerning lymph nodes from colon carcinoma patients. Because the histologic approach has long been relied on in the clinic, the reasons for the differences in results need to be elucidated. METHODS: Serial sections of genetic diagnosis positive but histologic negative lymph nodes of colon carcinoma patients were prepared for histologic and immunohistochemical studies. To investigate the possible contaminating influence of DNA sequences derived from degraded carcinoma cells from the primary site through the lymphatics, the authors also injected purified DNA of human colon carcinoma cells (SW480) into the foot pads of rats and sequentially examined lymph nodes using genetic diagnosis methodology. RESULTS: Careful histologic examination of genetic diagnosis positive, histologically negative lymph nodes of colon carcinoma patients confirmed the absence of cancer cells, whereas p53 protein was immunohistochemically demonstrated to be present in the cytoplasm of sinus histiocytes. In the rat experiment, positive reactions were obtained with the inguinal lymph nodes beginning 30 minutes after the injection, and lymph nodes at various sites were subsequently affected, even after a 72-hour period. CONCLUSIONS: The current study thus suggests that positive results with genetic diagnosis may simply indicate the presence of tumor DNA and do not necessarily mean that viable cancer cells are present. Although the genetic approach may still hold promise for the detection of cancer micrometastases, its predictive value should be carefully assessed clinicopathologically, because its supersensitivity may be associated with a greatly increased false-positive rate.

Animals↗
PubMed1985

The accuracy of patient reports of a family history of cancer.

We studied 121 consecutive families referred to a cancer genetics clinic. The proband provided a detailed written history of cancers occurring in first, second and third degree relatives and we attempted to obtain medical records to validate each reported case of cancer. For 216 cases of cancer in 180 first degree relatives, the primary cancer site was correctly identified in 83%. For second and third degree relatives the written histories of primary cancer were accurate for 67 and 60% respectively. The effect of the corresponding levels of error should be estimated in epidemiologic studies and should motivate clinicians to seek medical records in situations where a family history of cancer influences clinical management.

Adult↗
PubMedDate not supplied

Epidemiology of HNPCC.

The review of the available literature seems to suggest that the frequency of HNPCC in Caucasian populations ranges between a minimum estimate of 1 percent to a maximum of almost 6 percent of all colorectal carcinomas. The differences can be partly explained by the dissimilarities in patient selection, thoroughness of the pedigree analysis and selection of inclusion criteria. The most remarkable difficulty in estimates based on the family history is the fact, that the syndrome cannot be verified until several family members have been affected by cancer. Genetic tests which probably will be developed after cloning of the two HNPCC-genes, would make possible the diagnosing of single cases" (i.e. first mutation) of HNPCC in the near future. This may alter the previous estimates. However, the practical identification and recognition of Lynch syndrome families will continue to be based on a careful evaluation of the family tree until genetic tests will be adapted for routine practice in colorectal cancer.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed2002

Molecular biology and genetics of breast cancer development: a clinical perspective.

Understanding the molecular and genetic events affecting breast cancer development not only helps oncologists address important questions commonly asked by their patients but also helps clinicians gain insights into the biology of the disease. Although the molecular and genetic determinants of most sporadic breast cancer remain unknown, significant advances in the understanding of events that contribute to breast cancer formation have been made. It is now recognized that mutations in some tumor suppressor genes, such as p53, BRCA1, BRCA2, PTEN, or ATM, or epigenetic functional inactivation of other tumor suppressor genes, such as SYK and NES1, appear to play important early roles in the formation of some breast cancers. In addition, alterations in proto-oncogenes, such as HER2/neu, may contribute to the development of some breast cancer. The goal of this article is to further introduce clinicians to molecular and genetic pathways that contribute to breast cancer formation. By participating in the study of breast cancer development at the molecular as well as the histopathological level, oncologists can help develop novel prevention, diagnostic, and therapeutic approaches for the future.

Breast Neoplasms↗
PubMed1994

Colorectal cancer: lessons for genetic counselling and care for families.

Cancers of the colon and the rectum are the second leading cause of malignancy in European countries with similar incidence rates for men and women and, therefore, one of the major health concerns. Emphasis is placed on the early detection of a developing neoplasm in order to improve the life expectancy of patients and their quality of life. Colorectal cancer (CRC) is an excellent model for studying the etiology and pathogenesis of a common malignancy and the complex multistage process of carcinogenesis. Abundant clinical and pathological evidence suggests that CRC arises from benign adenomas that proceed through a series of steps to metastatic carcinomas. Following the discovery of oncogenes and, more importantly tumor suppressor genes, Fearon & Vogelstein (1990) proposed a scheme of genetic events which are associated with colorectal tumorigenesis. Genetic linkage studies have recently identified another type of gene for colon cancer susceptibility that seems to act by destabilising the genome.

Adult↗
PubMed2003

Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.

BACKGROUND: Genetic testing to refine cancer risk is available. However, little is known about factors affecting the uptake of testing for the most common hereditary colon cancer, hereditary nonpolyposis colorectal cancer. This study investigated attitudes, intentions, and uptake of genetic testing within newly identified families with hereditary nonpolyposis colorectal cancer. METHODS: Cohort study conducted at the National Institutes of Health between April 15, 1996, and November 20, 1999. Data were collected through questionnaires before semistructured education sessions, individual counseling sessions, and the offer of genetic testing. RESULTS: Of the 111 eligible first-degree relatives, 51% chose to participate in education and individual counseling sessions. Participation was associated with greater numbers of first-degree relatives with cancer; no association was found between participation and personal history of cancer. Before education and individual counseling sessions, 64% of participants had heard little about genetic testing for cancers; however, most (97%) stated intentions to pursue testing. Fifty-one percent identified learning about their children's risks as the most important reason to consider testing. Thirty-nine percent identified the potential effect on their health insurance as the most important reason to not undergo testing. Of the 111 eligible first-degree relatives, 51% chose to undergo genetic testing. Participants' intentions to pursue genetic testing were significantly affected by concerns regarding the ability to handle the emotional aspects of testing and the psychosocial effect on family members. CONCLUSIONS: Genetic counseling and testing offers the potential to focus cancer screening resources in individuals truly at increased risk, thereby reducing mortality and morbidity. Fears of discrimination and concerns about psychological and psychosocial issues may present barriers to the use of current cancer prevention strategies, including genetic counseling and testing.

Adolescent↗
PubMed2000

10q23.3 loss of heterozygosity is higher in lymph node-positive (pT2-3,N+) versus lymph node-negative (pT2-3,N0) prostate cancer.

Loss of heterozygosity (LOH) in the region of 10q23.3 has been associated with multiple tumors, including glioblastoma multiforme, melanoma, endometrial carcinoma, and prostate carcinoma. The tumor suppressor gene, PTEN/MMAC1, is also located in this region, and, in addition to other tumor types (eg, glioblastoma multiforme, endometrial, and melanoma), PTEN/MMAC1 mutations have been found in prostate cancer cell lines, xenografts, and hormone refractory prostate cancer tissue specimens. The aim of this study was to evaluate LOH at 10q23.3 as a marker of cancer progression in node-positive prostate cancer. Genetic alterations in the region of 10q23.3 were assessed in 23 node-positive (pT2-3, N+) and 44 node-negative prostate (pT2-3, N0) cancers with D10S532, D10S1687, D10S541, and D10S583 flanking polymorphic genetic markers; PTENCA, a genetic marker within PTEN/MMAC1, was also tested. Using DNA from paired normal and microdissected tumor samples, LOH at microsatellite loci was determined after polymerase chain reaction amplification. LOH in at least 1 marker was identified in 14% (6 of 44) of lymph node-negative and 43% (10 of 23) of lymph node-positive prostate cancers (chi-square test, P = .007). This increase in genetic alterations in node-positive prostate cancer suggests that 10q23.3 is a marker for metastatic progression.

Adenocarcinoma↗
PubMed2004

Colon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (HNPCC) mutations.

BACKGROUND: Although increased colonoscopic surveillance is recommended for hereditary nonpolyposis colon cancer (HNPCC) mutation carriers, limited information is available on adherence to colorectal cancer screening recommendations. This study investigated colonoscopy practices following genetic testing for HNPCC mutations. METHODS: This prospective cohort study was conducted between May 22, 1996, and November 13, 1999. Participants were 98 men and women without a personal history of colon cancer or colectomy who were identified from 11 extended HNPCC families. Colonoscopy use was evaluated by telephone before genetic counseling and was reassessed 1, 6, and 12 months following test results disclosure. RESULTS: During the 12 months following genetic counseling and testing, 73% (16/22) of HNPCC mutation carriers, 16% (8/49) of noncarriers, and 22% (6/27) of decliners reported having a colonoscopy (chi(2) = 23.97, P<.001). After controlling for clinical factors and pretest screening practices, HNPCC mutation carriers were significantly more likely than test decliners to have a colonoscopy (odds ratio [OR], 12.12; 95% confidence interval [CI], 3.42-42.96; P<.001). There were no differences in colonoscopy use between noncarriers and decliners (OR, 0.60; 95% CI, 0.28-1.29; P =.19). Perceived control over developing colon cancer also had a significant effect on posttest colonoscopy use (OR, 2.19; 95% CI, 1.22-3.94; P =.01). CONCLUSIONS: Genetic testing may motivate increased colonoscopic screening among HNPCC mutation carriers. Increased efforts may be needed to assess patients' family histories of colon cancer and provide appropriate referrals for genetic counseling and testing to target colonoscopic screening to high-risk individuals.

Adult↗