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PubMed1997

[Epidemiology and genetics of cancers of the ovary].

5% of ovarian cancers occur in a hereditary predisposition context. Clinical syndromes are defined by 3 or more cases of breast or ovarian cancers, or cancers from the Lynch-type II spectrum (colon, endometrium...) in one family branch. When the diagnosis is established, genetic counselling is provided to the kindred, a molecular diagnosis is undertaken for BRCA1 and BRCA2 genes, screening for ovarian and other at risk cancers is proposed, or prophylactic oophorectomy is proposed for at least 35 years old women without children conception projects.

Causality↗
PubMed2007

Provision of breast cancer risk information to women at the lower end of the familial risk spectrum.

BACKGROUND: Breast cancer family clinics provide risk information as one of their key functions. Many referrals to these clinics are 'low-risk' women. OBJECTIVE: It was the aim of this study to report on the generic risk status letters and printed materials (in the form of leaflets) provided to this category of counselees by UK cancer genetics centres. METHODS: A postal survey was conducted requesting information materials from genetic centres. RESULTS: Personalized risk letters and/or printed materials were received from 16 of 22 familial cancer centres in the UK. Personalized risk letters and printed materials currently provided to these counselees display inconsistencies and over-simplification that may lead to misunderstanding. CONCLUSION: There is a need for collaboration among cancer genetics centres to design more helpful and consistent literature.

Breast Neoplasms↗
PubMed2003

Physician use of genetic testing for cancer susceptibility: results of a national survey.

Genetic testing for inherited germ-line mutations associated with cancer susceptibility is an emerging technology in medical practice. Limited information is currently available about physician use of cancer susceptibility tests (CSTs). In 1999-2000, a nationally representative survey was conducted to estimate prevalence of CST use by United States physicians and assess demographic, training, practice setting, and practice patterns associated with use. A stratified random sample of clinicians in eight specialties was selected from a file of all licensed physicians. In total, 1251 physicians, including 820 in primary care and 431 in tertiary care, responded to a 15-min questionnaire by mail, telephone, fax, or Internet (response rate = 71.0%). In the previous 12 months, 31.2% [95% confidence interval (CI), 28.5-33.9] overall, including 30.6% (95% CI, 27.5-33.7) in primary care and 33.4% (95% CI, 27.9-38.9) in tertiary care, had ordered CSTs or referred patients elsewhere for risk assessment or testing. More physicians referred patients elsewhere [26.7% (95% CI, 24.2-29.2)] than directly ordered tests [7.9% (95% CI, 6.3-9.5)]. Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%], feeling qualified to recommend CSTs (OR, 1.96; 95% CI = 1.41-2.72), receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%), and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%). Lower CST use was associated with not knowing if there were local testing and counseling facilities (OR, 0.39; 95% CI, 0.23-0.66%). These findings underscore the importance of establishing effective clinical approaches to test use and promoting physician education to facilitate communication with patients about cancer genetics.

Adult↗
PubMed1999

Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer.

For genetic counselling of a woman on familial breast cancer, an accurate evaluation of the probability that she carries a germ-line mutation is needed to assist in making decisions about genetic-testing. We used data from eight collaborating centres comprising 618 families (346 breast cancer only, 239 breast or ovarian cancer) recruited as research families or counselled for familial breast cancer, representing a broad range of family structures. Screening was performed in affected women from 618 families for germ-line mutations in BRCA1 and in 176 families for BRCA2 mutations, using different methods including SSCP, CSGE, DGGE, FAMA and PTT analysis followed by direct sequencing. Germ-line BRCA1 mutations were detected in 132 families and BRCA2 mutations in 16 families. The probability of being a carrier of a dominant breast cancer gene was calculated for the screened individual under the established genetic model for breast cancer susceptibility, first, with parameters for age-specific penetrances for breast cancer only [7] and, second, with age-specific penetrances for ovarian cancer in addition [20]. Our results indicate that the estimated probability of carrying a dominant breast cancer gene gives a direct measure of the likelihood of detecting mutations in BRCA1 and BRCA2. For breast/ovarian cancer families, the genetic model according to Narod et al. [20] is preferable for calculating the proband's genetic risk, and gives detection rates that indicate a 50% sensitivity of the gene test. Due to the incomplete BRCA2 screening of the families, we cannot yet draw any conclusions with respect to the breast cancer only families.

Adult↗
PubMed1990

Genetic diagnosis of Lynch syndrome II in an extended colorectal cancer-prone family.

Knowledge of colon cancer genetics, with particular attention to precision in hereditary cancer syndrome diagnosis, can often enable highly targeted surveillance and management strategies for patients at high genetic risk. Unfortunately, the patient's family history of cancer is often given minimal attention, and knowledge of hereditary cancer syndromes is frequently limited. Indeed, many physicians still consider familial adenomatous polyposis (FAP) as the only genetic risk factor for colorectal cancer. This concern with FAP was noted in a colorectal cancer-prone kindred which for decades had been thought to manifest that syndrome. However, after meticulous genetic, medical, and pathologic studies, the cardinal phenotypic characteristics of Lynch syndrome II were observed. The potential for cancer control in current and future generations of families like this one clearly mandates the need for computerized registries which could transmit current information about hereditary colon cancer syndrome diagnosis, surveillance, and management.

Adolescent↗
PubMed1981

Familial cancer in an oncology clinic.

Knowledge of cancer genetics provides the physician with a powerful tool for the recognition of patients who might profit from highly targeted cancer surveillance/management programs. Family history was evaluated by registered nurses on 565 consecutively ascertained patients with verified cancer from Creighton's Oncology Clinic. This initial assessment yielded 199 (35.5%) families with two more family members with cancer (all sites) within an informative nuclear component, which constituted parents, grandparents, aunts/uncles, siblings, and children. One or more of the operational criteria for cancer familiality, namely vertical transmission of cancer, bilaterality, and/or multiple primaries, early age of onset, and three or more site specific cancers, were found on physician review in 171 (30.5%) of the families. This group was referred for comprehensive cancer genetic evaluation consisting of pedigree extension and tumor verification through all second degree, and when possible, third degree relatives. It was determined that approximately 4% of the total clinic population demonstrated findings compatible with hereditary cancer syndromes. Its universal extension in clinical practice is advocated because of the potential yield from meticulous surveillance for cancer of highly targeted organs in such high-risk kindreds, as well as the economy and general case of obtaining detailed family history by registered nurses. The physician is able, therefore, to devote his primary effort toward pedigree analysis and syndrome identification.

Adolescent↗
PubMed1996

Detection of specific genetic alterations in cancer cells.

The genetic changes found in human neoplasms suggest that hematopoietic tumors develop mainly from inappropriate expression (usually overexpression) of a growth promoting gene (oncogene). In contrast, the progression to malignancy of carcinomas occurs mainly through loss of tumor suppressor genes. Gene therapy might be used to turn off an activated oncogene, eg, by antisense treatment, whereas gene therapy to overcome tumor suppressor gene loss necessarily would focus on gene replacement in the tumor cell or pharmacologically substituting for lost gene function. On the other hand, the protein products of mutations that activate oncogenes or that inactivate tumor suppressor genes are both potential tumor antigens. Increasingly, characterization of the molecular changes that contribute to the malignant phenotype provides information impacting on tumor diagnosis and patient prognosis.

Base Sequence↗
PubMed1998

Breast cancer and genetic instability: the molecules behind the scenes.

Germline mutations in either the BRCA1 or the BRCA2 gene are responsible for the majority of hereditary breast cancers. The proposition that BRCA1 might play a role as a caretaker of the genome was first put forward by the demonstration that, in mitotic and meiotic cells, BRCA1 can interact with Rad51, which plays a major role in repair and/or recombination processes. From there, a fair body of observations have converged to support the concept that BRCA1 and BRCA2 play a role in monitoring and/or repairing DNA lesions. The relaxation of this monitoring caused by mutations of either of these two genes leaves unrepaired events, leading to the accumulation of mutations and ultimately to cancer. Understanding the precise biochemical function of BRCA1 and BRCA2 should provide a basis for early diagnosis and prevention in women carrying a predisposition to breast cancer.

Animals↗
PubMed2000

Chinese alcoholic patients with esophageal cancer are genetically different from alcoholics with acute pancreatitis and liver cirrhosis.

OBJECTIVE: It is a mystery why some alcoholic patients acquire certain organ-specific complications of alcoholism, whereas other alcoholic patients acquire different ones. The aim of this study was to investigate the differences among Chinese alcoholic patients with esophageal cancer, acute pancreatitis, and liver cirrhosis by studying the genetic polymorphisms of ADH2, ADH3, ALDH2, and P4502E1. METHODS: Liver alcohol dehydrogenase (ADH), aldehyde dehydrogenase (ALDH), and cytochrome P4502E1 (P4502E1) are polymorphic at the ADH2, ADH3, and ALDH2 loci and the 5'-flanking region of the P4502E1. Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we determined the polymorphism of the above-mentioned alcohol metabolizing genes in 59 alcoholics with carcinoma of the esophagus (alcoholic esophageal Ca), 87 acute alcoholic pancreatitis patients, 116 alcoholics with liver cirrhosis (alcoholic cirrhosis), 19 alcoholics with both liver cirrhosis and acute pancreatitis (alcoholic P plus C), and 241 nonalcoholic patients. RESULTS: The results showed that the allele frequency of ALDH2*2 was significantly higher in the alcoholic esophageal Ca group than in the alcoholic pancreatitis and alcoholic cirrhosis groups. The allele frequency of ADH2*1 was significantly higher in the alcoholic esophageal Ca patients than in nonalcoholic control groups. The ALDH2*2 was significantly lower in alcoholic groups (except the alcoholic esophageal Ca group) than in nonalcoholic control groups. The allele frequencies of ADH2*1 and ALDH2*2 are higher in alcoholic patients with esophageal Ca than alcoholic patients without it. The genotype distribution of P4502E1, detected by RsaI and PstI, was not different among alcoholic patients with different organ diseases. CONCLUSIONS: The allele frequency of ADH2*1 and ALDH2*1 are different among subpopulations of alcoholics, suggesting that alcoholic patients with different specific types of organ damage are genetically different. The Chinese alcoholic patients with the ADH2*1 and ALDH2*2 allele are more susceptible to esophageal Ca.

Adult↗
PubMed2002

Genetics of colorectal cancer: hereditary aspects and overview of colorectal tumorigenesis.

Familial adenomatous polyposis and hereditary non-polyposis colorectal cancer are dominantly inherited conditions with 100% and 80% life-time risk of developing colorectal cancer, respectively. The genetic mutations responsible for these two conditions lie in the adenomatous polyposis coli (APC) and mismatch repair genes. These same genes also play a key role in the formation of sporadic colorectal cancers, which arise on a background of a similar spectrum of mutations to the hereditary cancers. This article examines the genetic mechanisms underlying the hereditary colorectal cancers, as well as genetic predisposition to colorectal cancer in the general population in the absence of a clear-cut genetic syndrome. Colorectal cancer arises as the cumulative effect of multiple mutations within the cell, allowing it to escape growth and regulatory control mechanisms. This step-wise progression of mutations facilitates the histological transition from normal mucosa to adenoma to carcinoma. The latter part of this paper focuses on the key genetic events underlying this process and provides an overview of the genetic mechanisms responsible for colorectal tumorigenesis.

Adenoma↗
PubMed2002

[Genetics of pancreatic cancer: recent advances in molecular diagnosis].

Pancreatic cancer is an important cause of death from cancer throughout the world. Until recently, pancreatic cancer was a poorly understood disease. Research in the past decade has shown conclusively, however, that pancreatic cancer is primarily genetic in nature. Inactivation with a variety of tumor-suppressor genes such as p53, p16, and DPC4, and genome-maintenance genes such as BRCA2, coupled with the activation of oncogenes such as K-ras, are a few of the mutations that trigger the growth of cancerous cells. The genetic profile of pancreatic cancer has reshaped the nomenclature describing histological progression in pancreatic ductal tumorigenesis. K-ras mutations frequently occur early, whereas changes in the expression and genetic integrity of the p16 gene appear in intermediate lesions, and the inactivation of the p53 and DPC4 genes and activation of telomerase occur late in the neoplastic progression. Although the majority of pancreatic cancers occur sporadically, a minority has been shown to aggregate in families and has aided our understanding of pancreatic tumorigenesis. An improved understanding of the genetics of pancreatic cancer should lead to the development of gene-based screening tests and novel rational therapies.

DNA-Binding Proteins↗
PubMedDate not supplied

Genetic susceptibility to breast and ovarian cancer: risk assessment, genetic counseling, and management issues.

Genetic testing for disease susceptibility genes is available for a large number of genetic disorders. With the expected shortage of trained genetic professionals to offer risk assessment, counseling, testing, and management to patients, primary care physicians will be asked to provide these services. In this review, we discuss the genetic basis of breast and ovarian cancer susceptibility and outline specific recommendations for clinical practice.

Algorithms↗