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PubMed2005

Genetics of hereditary colorectal cancer.

Genetic factors can dramatically influence the risk of colorectal cancer, and the molecular bases of many hereditary colorectal cancer syndromes, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and hereditary nonpolyposis colorectal cancer (HNPCC) have been elucidated. Additional syndromes continue to be defined as new genes, including MYH , are linked to the development of colonic polyps and cancer. The risks of colorectal cancer are variable and depend on the specific germline alterations. Some mutations are associated with a 100% lifetime risk of developing cancer, while others are associated with only a mild increase in risk. Although there are overlapping clinical features in many of these syndromes, they can be distinguished by the age at cancer diagnosis, inheritance pattern, number and distribution of polyps, specific histologic features of the cancers, and the presence of distinctive extracolonic features. The introduction and refinement of genetic testing has provided a new and invaluable tool for the diagnosis and assessment of cancer risk for suspected cases of hereditary colon cancer.

Adenomatous Polyposis Coli↗
PubMed2002

Genetic diagnosis of pancreatic cancer.

Genetic analysis of pancreatic juice is a promising aid for the accurate and early diagnosis of pancreatic cancer. K- ras mutation is frequently observed in pancreatic cancer; however, it is not specific for carcinoma because pancreatic adenoma and pancreatitis also show this mutation. Overexpression of p53 protein is solely detected in pancreatic juice from pancreatic cancer patients, but the positivity rate differs among various reports. Telomerase activity in pancreatic juice was detected in 20 of 24 (83.3%) pancreatic cancer patients and in only 1 of 23 (4.3%) pancreatic adenoma patients, while none of 23 (0%) pancreatitis patients showed evident telomerase activity. The relative value for telomerase activity was significantly higher in pancreatic cancer than in adenoma and pancreatitis. Centrosome abnormalities are very frequently seen in pancreas cancer tissues and the detection of these abnormalities is expected to be a potent new diagnostic tool for the genetic analysis of pancreatic juice. Genetic analysis of pancreatic juice will improve the sensitivity and specificity of pancreatic cancer diagnosis.

Biomarkers, Tumor↗
PubMed1986

[Clinico-genetical studies of colonic cancer. II. Genetic analysis of predisposition to colonic cancer].

The structure of subjection to different clinical forms of colon cancer and to the morbidity as a whole approximates better the quasi-continued phenotypical model within which the contribution of genetic factors reaches 68-84%, that of incidental medium factors being 16-32%. Genetic study of heterogeneity of colon cancer clinical forms revealed that their pathogenetic community was quite high. However, the origin of colon cancer depends strongly on genetic factors (83.7 +/- 7.3%), in comparison with rectal cancer (67.9 +/- 7.1%). The analysis of colon cancer interrelation with other malignant neoplasms (including specific ones for women--breast and uterus cancer) revealed that the development of another malignant neoplasms was the result of the influence of partially common genes (20-50%) which predetermined the development of colon cancer and other malignant neoplasms. According to the data obtained in this study, the tables of repeated risk have been worked out which may be used for medico-genetic consultation.

Adult↗
PubMed1995

Genetics in cancer prediction, screening, and counseling: Part I, Genetics in cancer prediction and screening.

PURPOSE/OBJECTIVES: To review molecular biology and gene technology as they relate to cancer prediction and screening. DATA SOURCES: Published professional articles, texts, and proceedings; computerized data bases. DATA SYNTHESIS: Basic principles of inheritance and mutations; a discussion of proto-oncogenes, oncogenes, and anti-oncogenes; a summary of gene-mapping techniques; and a review of genes linked to familial, breast, ovarian, and colorectal cancers. CONCLUSIONS: Most human cancers are influenced genetically but are not inherited. Discoveries about cancer genes play a major role in identifying individuals and families who are likely to develop cancer. IMPLICATIONS FOR NURSING PRACTICE: Nurses need to heighten their awareness of this science and its ramifications, which ultimately will affect recommendations for early detection and screening.

Genes, Tumor Suppressor↗
PubMed2001

Genetic testing for cancer predisposition.

Clinical cancer genetics is becoming an integral part of the care of cancer patients. This review describes the clinical aspects, genetics, and clinical genetic management of most of the major hereditary cancer susceptibility syndromes. Multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and familial adenomatous polyposis are examples of syndromes for which genetic testing to identify at-risk family members is considered the standard of care. Genetic testing for these syndromes is sensitive and affordable, and it will change medical management. Cancer genetic counseling and testing is probably beneficial in other syndromes, such as the hereditary breast cancer syndromes, hereditary nonpolyposis colorectal cancer syndrome, Peutz-Jeghers syndrome, and juvenile polyposis. There are also hereditary cancer syndromes for which testing is not yet available and/or is unlikely to change medical management, including Li-Fraumeni syndrome and hereditary malignant melanoma. Thorough medical care requires the identification of families likely to have a hereditary cancer susceptibility syndrome for referral to cancer genetics professionals.

Breast Neoplasms↗
PubMed2001

[Magnetic resonance imaging of the breast].

This article reviews the current benefits and limitations of MR imaging of the breast. Techniques and results based on a review of the literature are first presented then analyzed. This imaging modality is clearly indicated for the diagnosis of recurrent disease and clinically occult breast cancers. Its value in other fields (neoadjuvant chemotherapy, staging of cancers, genetic cancers) is still experimental. Owing to its variable specificity, MRI is not currently recommended for the diagnosis of microcalcifications or evaluation of asymptomatic mammographically dense breasts. MR-guided interventional procedures should improve the value of this technique in breast pathology.

Breast Neoplasms↗
PubMedDate not supplied

Women's knowledge and attitudes about genetic testing for breast cancer susceptibility.

OBJECTIVE: To assess female primary care patients' knowledge about breast cancer genetics and attitudes toward genetic testing. DESIGN: Self-administered survey. PARTICIPANTS: A convenience sample of 91 female patients awaiting appointments at a large primary care clinic of Group Health Cooperative in Seattle, Washington. RESULTS: Forty-seven percent of women had read or heard almost nothing about genetic susceptibility testing, and most did not know the answers to questions that assessed knowledge about breast cancer genetics. Eighty-one percent "somewhat" or "strongly" agreed that testing should be offered to everyone; women who had heard or read about genetic testing for breast cancer were more likely to agree that genetic testing should be offered only to people who have a reason to think that they have an altered gene. When asked whether they planned to have genetic testing for breast cancer, many women said "probably or definitely yes" (71% would do so if insurance covered the cost; 44% would do so even if they had to pay out-of-pocket). CONCLUSIONS: Although most women knew little about genetic testing, many expressed interest in being tested and believed that it should be offered to everyone. Primary care providers may be asked to educate women about cancer genetics and appropriate use of susceptibility testing.

Adolescent↗
PubMed2004

Association studies for finding cancer-susceptibility genetic variants.

Cancer is the result of complex interactions between inherited and environmental factors. Known genes account for a small proportion of the heritability of cancer, and it is likely that many genes with modest effects are yet to be found. Genetic-association studies have been widely used in the search for such genes, but success has been limited so far. Increased knowledge of the function of genes and the architecture of human genetic variation combined with new genotyping technologies herald a new era of gene mapping by association.

Cell Transformation, Neoplastic↗
PubMed1987

Genetic predisposition to cancer with special reference to mutagen sensitivity.

From studies on cancer genetics, available information suggests the following tentative conclusions: 1. Cancer starts with a genetic change (or changes) from a normal somatic cell, but the changes (mutational events) must be specific in a target tissue cell. In a number of cases, genetic changes can be detected at the chromosome level. 2. Hereditary cancers usually have one genetic lesion already existing prezygotically; therefore only one additional mutational event is required in the homologous gene to complete the process of neoplastic transformation. In nonhereditary neoplasms, both mutations must occur postzygotically. 3. Individuals with high spontaneous mutation rates (monitored by chromosome breakage rates) are more liable to acquire specific genetic lesions than those with low mutation rates; therefore they are at higher risk to develop neoplasms. 4. Individuals with genetic defects in response to damage induced by mutagens (carcinogens) are more liable to accumulate genetic lesions than those who are more resistant; therefore, they are more liable to develop cancers. Mutagen sensitivity or resistance is probably genetic expression of DNA repair capabilities. 5. An effective assay method for sensitivity or resistance to mutagens can be developed to analyze the human population to identify the at-risk fraction.

Chromosome Aberrations↗
PubMed2002

Awareness of genetic testing for colorectal cancer predisposition among specialists in gastroenterology.

OBJECTIVES: Adult gastroenterologists practicing in New York State were surveyed to determine their practice with regard to identifying family histories consistent with inherited forms of colorectal cancer, and to assess their awareness of cancer genetic counseling and molecular genetic testing for familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC). METHODS: A closed-ended questionnaire was mailed to 815 gastroenterologists identified through the membership Directory of the American Gastroenterological Association (1998). Two mailings resulted in a response rate of 35%. RESULTS: In all, 99% of the gastroenterologists obtained a family history from their patients, and 95% were aware of cancer genetic counseling. However, only 51% would routinely refer patients for genetic counseling before providing cancer predisposition testing. In addition, only 52% were aware of the availability of genetic tests for FAP and 34% for HNPCC. Presented with a family history consistent with HNPCC, 79% could identify the syndrome, 26% recommended genetic counseling for the consultand, and 16% advised appropriate screening, according to current recommendations. CONCLUSIONS: The majority of gastroenterologists do obtain a family history on their patients. However, there is a need for physician education regarding the recognition of pedigrees consistent with inherited colorectal cancer, the genetic counseling process, and the availability of mutation testing for FAP and HNPCC.

Adenomatous Polyposis Coli↗
PubMed2006

Communication in genetic counselling for breast/ovarian cancer.

Cancer genetic counselling represents a very special situation of interaction between the geneticist and the counselee, marked by a number of specificities that account for its complexity. Cancer genetic counselling has multiple repercussions, such as identification of a deleterious genetic mutation associated with a high probability of developing breast and/or ovarian cancer, the implementation of preventive measures ranging from close surveillance to the decision to perform mutilating prophylactic surgical procedures, or the impact of the information on the other members of the counselee's family also concerned by the genetic risk. This chapter is based on a review of the literature that has been rapidly growing over recent years and on our clinical expertise as psycho-oncologists and geneticists. We will first present the reasons that make the information so critical. These reasons are both objective (complexity of the genetic information per se, difficulties of understanding the concept of risk) and subjective (information given to people with an emotionally charged family history and a perception of risks closely linked to their representation of cancer). At the same time, the counsellees are charged with the transmission of this information to members of their own family. We will then discuss the various modalities of communication in this setting. While unidirectional transfer of information from the geneticist to the counselee has been the preferred method in cancer genetics for a long time, a model based on patient-centered communication is more adequate in predictive medicine and allows shared decision making. In all cases, the different professionals involved in the process have to learn how to work in a performing cohesion. We also present the main guidelines on the subject and the various underlying objectives with regard to information delivery and the subject's personal experience. Although the psychological impact of genetic counselling consultations raises a number of questions, the results of preliminary studies are reassuring, demonstrating psychological benefits. However, a number of aspects concerning communication in predictive medicine remain to be investigated and improved.

Breast Neoplasms↗
PubMed2004

Genetic alterations in hereditary breast cancer.

Genetic linkage studies have led to the identification of highly penetrant genes as the possible cause of inherited cancer risk in many cancer-prone families. Most women with a family history of breast/ovarian cancer have tumors characterized by alterations in particular genes, mainly BRCA1 and BRCA2, but also CHK2, ATM, STK11 and others. This paper examines the BRCA1 and BRCA2 genes, focusing on the Italian pattern of mutations. The function of these two genes, classified as tumor suppressors, is linked with key metabolic mechanisms such as DNA damage repair, regulation of gene expression and cell cycle control. The pathological BRCA allelic variants may cause alteration of protein function, transcriptional activity and DNA repair; accumulation of the defects leads to widespread chromosome instability that may be directly responsible for cancer formation. In fact, mutations in BRCA1 and BRCA2, conferring a highly increased susceptibility to breast and ovarian cancer, do not lead to cancer by themselves. The current consensus is that these are 'caretaker' genes, which, when inactivated, allow other genetic defects to accumulate. The nature of these other molecular events may define the pathway through which BRCA1 and BRCA2 act. The BRCA mutation spectrum is complex, and the significance of most nucleotide alterations is difficult to understand. Moreover, the mutation pattern seems to be related to ethnicity. The Italian Consortium of Hereditary Breast and Ovarian Cancer has reviewed 1758 families; 23% have been found to be carriers of pathogenetic mutations in BRCA1 or BRCA2. Founder mutations have been described in geographically restricted areas of Italy; a regional founder effect has been demonstrated in Italy for the mutations BRCA1 5083del19 and BRCA2 8765delAG, and a probable new founder mutation has been characterized in Tuscany. The presence of founder mutations has practical implications for genetic testing.

Adult↗
PubMed2003

[Clinical and molecular diagnosis of inherited breast-ovarian cancer].

OBJECTIVE: The aim of this work was to pinpoint familial breast and/or ovarian cancer risk. Clinical cancer genetics include: diagnostic cancer genetics, cancer genetic counseling and management of women at high risk of developing breast and/or ovarian cancer. MATERIAL AND METHODS: An update of documented data was performed in order to assess our current knowledge about inherited breast-ovarian cancer. RESULTS: Most breast cancers (BC) are sporadic while 5-10% are estimated to be due to an inherited predisposition. Rare autosomal dominant alteration in two genes, BRCA1 and BRCA2, which confer a high risk of developing BC and ovarian cancer (OC), are likely to account for most families with multiple cases of early-onset BC and OC, but only 3-4% of all BC. The estimations of their prevalence and penetrance vary greatly, depending on the population studied, the study design, statistical methods and the sensitivity of technical methods for detection of mutations. Penetrance can be very high, but incomplete (maximum 80%). Penetrance and age at onset of the same mutation show great variability within and between BC families. This could be due to the effects of other genetic as well as non-genetic factors that are being studied. The heterogeneity of families makes the identification of other high-risk genes difficult. Additive effects of several susceptibility genes could explain much more BC in the general population (polygenic models). Molecular diagnoses have become feasible. Specific consultations in oncogenetics help clinicians and patients understand hereditary components, establish molecular diagnoses, provide guidelines for a better surveillance of people at high risk of developing BC, OC or both and reassure the mutation non-carriers. The strategies of management and treatment of BC and OC in mutation carriers remain under discussion and it is is difficult to choose preventive options. CONCLUSION: Inherited BC or OC due to a mutation in BRCA1 or BRCA2 are rare in the general population. However, women and men have the right to be informed of the possibilities concerning presymptomatic testing, risk assessment, surveillance, prevention and psychological support with respect to the potential benefits and limitations. Other large prospective studies are needed to validate rapidly the methods of surveillance and prevention in this group at "high risk" in order to adapt them to very large populations. However, predictive medicine should be used with care.

Breast Neoplasms↗
PubMed1994

[Genetic alterations of human colorectal cancer].

Genetic alterations of several oncogenes and tumor suppressor genes are associated with human colorectal carcinogenesis. Especially in mutations, the K-ras, p53, APC and DCC gene frequently occurred, and these gene alterations seem to have important roles in colorectal carcinogenesis. We investigated 28 human colon cancer specimens obtained from surgery and five human colon cancer cell lines by PCR-SSCP assay, PCR-OSH assay, RT-PCR or sequencing method. Forty percent of cancers from surgical specimens had Ki-ras 2 (codon 12/13), p53 (Exon 5-8), APC (MCR) gene mutations, and fifty-seven percent of them had lower expression of DCC gene that of normal matched colon mucosa of the same patient. G to A transition was the most frequent in K-ras mutational spectrum in this case; 25% of patients had both k-ras and p53 gene point mutations. Form the results, we concluded that it in colorectal carcinogenesis for both K-ras and p53 gene point mutations might not necessary occur.

Colonic Neoplasms↗
PubMedDate not supplied

Risk of ovarian cancer and genetic relationship to other cancers in families.

The risk of ovarian and other cancers was assessed in first-degree relatives of patients with ovarian cancer from an analysis of 391 pedigrees. Overall there was a significant increase in the risk of ovarian cancer (4.5-fold; p < 0.001). The risks were 14.2- (p < 0.001), 5.2- (p < 0.001) and 3.7-fold (p < 0.001) for relatives of patients diagnosed before 45, between 45 and 54 and after the age of 55, respectively. There was no significant increase in the risk of cancers of the uterus, stomach, lung, colorectum or prostate. There was, however, an overall increase in the risk of breast cancer (1.3-fold; p < 0.05). The risk was highest for those relatives of patients diagnosed with ovarian cancer before the age of 55 (2.2-fold; p < 0.01). These results support the role of genetic factors in the aetiology of ovarian cancer and provide further evidence for the existence of a breast-ovarian family cancer syndrome, which may result from the pleiotropic effects of the same gene in some families.

Adolescent↗
PubMed2006

Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations.

Cancer survivors constitute 3.5% of the United States population, but second primary malignancies among this high-risk group now account for 16% of all cancer incidence. Although few data currently exist regarding the molecular mechanisms for second primary cancers and other late outcomes after cancer treatment, the careful measurement and documentation of potentially carcinogenic treatments (chemotherapy and radiotherapy) provide a unique platform for in vivo research on gene-environment interactions in human carcinogenesis. We review research priorities identified during a National Cancer Institute (NCI)-sponsored workshop entitled "Cancer Survivorship--Genetic Susceptibility and Second Primary Cancers." These priorities include 1) development of a national research infrastructure for studies of cancer survivorship; 2) creation of a coordinated system for biospecimen collection; 3) development of new technology, bioinformatics, and biomarkers; 4) design of new epidemiologic methods; and 5) development of evidence-based clinical practice guidelines. Many of the infrastructure resources and design strategies that would facilitate research in this area also provide a foundation for the study of other important nonneoplastic late effects of treatment and psychosocial concerns among cancer survivors. These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer.

Antineoplastic Agents↗
PubMed2001

Genetic Epidemiology--science and ethics on familial cancers.

Genetic epidemiology provides data on cancer etiology, familial risks and genotype-specific risks. These data are useful for clinical counselling and gene identification. The studies require large, unbiased sample sizes and collaboration between research teams, nationally and internationally. A recent study on Nordic twins suggests that in colorectal, breast and prostate cancer, the inherited component ranges between 27 and 42%, far in excess of the known susceptibility genes. The data from the Swedish Family-Cancer Database, particularly on second cancers, also suggest that a main genetic component in cancer is polygenic. The results have implications for design of genetic studies and for clinical counselling.

Case-Control Studies↗
PubMed1998

Genetic testing for cancer: issues and ethical implications.

The explosive progress that has been made in cancer genetics in the past few years has given rise to new hope. These promising discoveries have also given rise to considerable uncertainty and debate concerning how this knowledge should be applied and who should have ownership of its products and effects. The medical, psychological, social, legal, and ethical implications of genetic testing for cancer, specifically breast and ovarian cancers, are discussed. The ethical principles of confidentiality, justice, beneficence, and autonomy as they relate to cancer predisposition testing also are explored. Recommendations are made for nursing practice, education, and research.

Confidentiality↗