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At least 883 records · Page 49Linked to original sources
PubMed2001

Awareness of genetic testing for breast cancer risk among women with a family history of breast cancer: effect of women's information sources on their awareness.

The purpose of this study was to relate women's awareness of breast cancer risk genetic testing to the sources of information used by women for obtaining information about breast health. A sample of 354 women with a family history of breast or ovarian cancer was interviewed. Study variables included women's information sources for breast health, personal risk perceptions, family history of breast cancer, personal experience (i.e., having had a biopsy), awareness of genetic testing, and demographic variables. Regression analyses were conducted to assess the relationships among the variables. Only approximately one-third of the study participants were moderately aware of genetic testing for breast cancer risk. The Internet Web was the only information source significantly related to awareness of genetic testing. Having had a biopsy, being more highly educated, and being married also were significant predictors of awareness of genetic testing. Study participants were not uniformly aware of genetic testing. If the diffusion of Web technology continues, the Web may be a promising source for increasing awareness on genetic testing for breast cancer risk.

Adolescent↗
PubMed1999

Influence of a family history of cancer within and across multiple sites on patterns of cancer mortality risk for women.

A case-control study nested within a large cohort, the American Cancer Society Cancer Prevention Study-1, was conducted to test associations between a family history of cancer and cancer mortality in women. By using logistic regression, the authors analyzed family history, as reported by 429,483 women enrolled in 1959, relative to subsequent mortality through 1972 from cancer within and across multiple sites. The associations between family history and cancer mortality were generally stronger within cancer sites than across cancer sites. Within-site associations were found for breast cancer (odds ratio (OR) = 1.9), colorectal cancer (OR = 1.6), stomach cancer (OR = 1.9), and lung cancer (OR = 1.7). Across-site associations were observed for a family history of 1) breast cancer as a risk factor for ovarian cancer mortality (OR = 1.6), 2) stomach cancer as a risk factor for ovarian cancer mortality (OR = 1.5), and 3) uterine cancer as a risk factor for pancreatic cancer mortality (OR = 1.6). A general pattern of positive associations was observed between a family history of cancer at several sites and subsequent death from pancreatic cancer. These findings support the growing body of evidence from cancer genetics suggesting that inherited cancer-susceptibility genes increase the risk for cancer at many sites and are not specific to cancer risk within a single site.

Adult↗
PubMed1995

[Genetic predisposition to cancer].

This review focuses on the genetics of inborn predisposition to the development of cancer. The gene defects responsible for the majority of the most common syndromes of inherited predisposition to cancer have been deciphered during the last five years. These discoveries have shown that the genetics of most of these inherited forms of cancer is remarkably simple: the mechanism underlying the risk of cancer is precisely the one proposed by Knudson to explain the inherited forms of retinoblastoma. Only a small minority of the cancers are imputable to inherited mutations causing a very high risk of cancer. However, low penetrance susceptibility genes, mainly acting as environmental risk modifiers, are probably involved in the development of the majority of cancers. As much as possible, we will consider the immediate and long term possible repercussions on everyday medical practice of these advances in basic understanding of genetic cancer risks.

Genetic Counseling↗
PubMed1994

Genetics of colorectal cancer.

Recent advances in understanding the genetic basis of malignant disease have been dominated by research in colorectal cancer. In familial adenomatous polyposis, characterisation of the causative gene had immediate clinical relevance allowing confident prediction of disease inheritance. Somatic mutations in this gene have been demonstrated to have a fundamental role in the development of sporadic colorectal cancer. More recently, efforts have focused on the genetic abnormalities responsible for hereditary non-polyposis colorectal cancer which may possibly account for up to 15% of all colorectal malignancies. In the foreseeable future, it is possible that significant population-based genetic screening for this condition will be available. As the molecular basis of colorectal cancer is elucidated, it will inevitably lead to radical changes in clinical management, particularly with the possible introduction of gene therapy and chemoprevention. This review discusses the current developments in colorectal cancer genetics which will be central to such changes.

Adenomatous Polyposis Coli↗
PubMed1997

[Genetic testing for cancer susceptibility: the present situation in Japan].

Genetic diagnosis of hereditary tumors has progressed extensively and contributed to the presymptomatic testing for mutation carriers. This evolution of genetic testing for cancer susceptibility leads to improved prevention and early detection of cancers. However, the benefits and limits of testing, and the range of prevention and treatment are different in each hereditary tumor. The American Society of Clinical Oncology (ASCO) made the statement on genetic testing for cancer susceptibility and showed three categories for consideration of cancer predisposition testing. They recommend that genetic testing should be offered only for the categories including well-defined tumors. We described the characteristics of hereditary tumors in the three categories and discussed the significance of genetic testing for each tumor. In conclusion, genetic testing for cancer susceptibility should be applied only for subsets of hereditary syndromes, and it is important to continue the analysis of the significance (frequency or penetrance) of mutations of cancer predisposition genes and to make clear the genotype-phenotype and other correlations.

Breast Neoplasms↗
PubMed1999

Genetic alterations in bronchial lavage as a potential marker for individuals with a high risk of developing lung cancer.

Using 12 microsatellite markers, we have studied DNAs from the bronchial lavage of 90 individuals who were referred to an early-lung-cancer clinic in the Northwest of England with suspected lung cancer. Genetic alterations were detected in 15 (35%) of 43 patients with lung cancer but also in 11 (23%) of 47 patients with no cytological or radiological evidence of bronchial neoplasia. No significant differences were found between the referring symptoms in any of the second group of individuals with and without genetic alterations. No correlation was found between smoking exposure and loss of heterozygosity (LOH)/microsatellite alterations (MAs) in the microsatellite markers. On comparing LOH with MAs based on cytology review, we found that the prevalent type of alteration in specimens with cytological evidence of malignancy was LOH; in contrast, the individuals with no cytological evidence of malignancy showed a preponderance of MAs (P = 0.01). Our results indicate that a substantial proportion of cells in the bronchial lavage from suspected lung cancer patients carry identifiable genetic alterations. However, the presence of genetic alterations in the bronchial lavage of individuals with no clinical evidence of lung cancer raises the question whether instability is a phenomenon solely associated with cancer or represents a feature of nonneoplastic diseases. Our results suggest that microsatellite PCR-based assays can be developed as tools for the earlier identification of genetic changes in cells exfoliating in the bronchus.

Adenocarcinoma↗
PubMed2006

Communication and decision-making about seeking inherited cancer risk information: findings from female survivor-relative focus groups.

Dramatic advances in cancer genetics and identification of germline mutations in cancer genes such as BRCA1 and BRCA2 have led to new options in genetic risk assessment for families with histories of breast and ovarian cancer. However, little research has been carried out with individuals and their families regarding how cancer risk information is communicated within families and factors that may affect individuals and family members making informed decisions about their health. This study explored participants' knowledge of cancer risk, their perceptions and concerns regarding inherited cancer risk information, family communication patterns, and factors that may affect their decision to learn about inherited cancer risk in their families. Nine focus groups of family dyads were conducted (N=39) consisting of breast or ovarian cancer patients and close female relatives. All transcribed interviews were analyzed using qualitative software. Key findings showed diversity in how families communicated and made decisions about their health, persistent worry for their families, lack of knowledge about inherited cancer, vigilance in watching their health, and barriers present in communicating about genetic risk. Results from this study support inclusion of family members in addressing inherited cancer risk information and contextual family factors critical to consider in potentially high risk families.

Attitude to Health↗
PubMed2006

[Social and family considerations in genetic counselling].

Genetic knowledge can be viewed as an important tool in the prevention of hereditary disease. This article discusses the social issues that the link between genetics and prevention raises in cancer genetic counselling and testing. In particular, the moral dilemmas which health professionals and patients face in relation to disclosing genetic information to kin are described. The authors argue that questions about disclosing information and balancing autonomy and responsibility are not only ethical questions but biopolitical issues.

Family↗
PubMed1997

Clinical and molecular aspects of multiple endocrine neoplasia.

The discovery that RET proto-oncogene mutations are responsible for MEN2 and FMTC was a landmark from the perspective of many, including the geneticist involved in basic science, the molecular diagnostician, the clinician, and MEN2/FMTC families. The discovery has provided basic information concerning the role of proto-oncogenes and proto-oncogene activation. The identification of MEN2/FMTC-associated mutations has also allowed for the availability of direct mutation analysis in the routine clinical laboratory. The discovery has resulted in definitive risk assessment for members of FMTC/MEN2 kindreds and improved management of RET mutation carriers. The discovery also links two realms of genetics that are often separated: cancer genetics and "classic" mendelian disorders. Finally, information concerning the molecular basis of Hirschsprung disease indicates that our understanding of the phenotypic consequences of RET mutations is considerable but not yet complete.

Hirschsprung Disease↗
PubMed1998

[Orbital and stomach metastasis from invasive lobular breast carcinoma].

Orbital or ocular metastatic tumors may originate from breast cancer. Few studies have been made regarding their histopathological classification. A 71-year-old female noted a tumor in the right orbital region. She had had bilateral breast cancer 2 years before and gastric cancer 5 months before. Histopathology had shown stage II invasive ductal cancer (scirrhus) in the right breast and stage III invasive lobular cancer in the left. Signet-ring cells were present in the breast and gastric cancers. Biopsy of the right lower eyelid showed poorly differentiated adenocarcinoma with signet-ring cells. Indian file pattern, which is specific for invasive lobular cancer, was also present, suggesting that the orbital tumor had metastatized from the left breast cancer. Genetic analysis of the gastric cancer using polymerase chain reaction showed a mutation at exon 8 of the p53 tumor suppressor gene, indicating the cancer to be metastatic. These results led to the conclusion that invasive lobular cancer of the left breast was the primary lesion for the gastric and orbital metastases. This case also illustrates that signet-ring cells, which are usually seen in gastric cancer, may be present in invasive lobular breast cancer and in orbital metastasis.

Aged↗
PubMed2000

Hereditary breast cancer: a brief overview.

INTRODUCTION: Breast cancer, one of the most common and serious malignancies affecting women, occurs in sporadic and hereditary forms. The recent identification of breast cancer predisposing genes involved in the aetiology of breast cancer has provided us with new insights into this field. METHODS: In order to understand the molecular basis of familial breast cancer, English literature identified through Medline between 1995 and February 2000 were reviewed using the search terms: breast cancer, genetics, hereditary, BRCA1 and BRCA2, amongst others. RESULTS: In this brief overview, some of the advances in the aetiology of breast cancer will be highlighted. This overview is divided into the following categories: cancer genes, inherited genetic predisposition to breast cancer, BRCA1 and BRCA2.

Breast Neoplasms↗
PubMed1996

The genetic basis of colorectal cancer risk.

The genetic understanding of colon cancer susceptibility is advancing very rapidly; it has already had a major impact on clinical management, and we have only seen the beginning. Genes responsible for the two well-defined familial colon cancer syndromes (APC and HNPCC) have been identified. These syndromes can now often be diagnosed by genetic rather than by endoscopic screening of the at-risk individuals in a family. Linkage analysis, although clinically cumbersome, can be performed for families with both APC and HNPCC. In some families, the mutation itself can be determined and a specific mutation assay can be used in the other at-risk members of the family. Both linkage analysis and mutational assays are still largely performed in specialized high-risk cancer clinics. For APC, a truncated protein assay performed on cells isolated from peripheral blood is now commercially available, so the genetic diagnosis of APC can be made by any clinician. It is important, however, to be able to provide appropriate genetic counseling to families before and after genetic testing for these familial colon cancer syndromes. The familial clustering of "sporadic" colon cancer has been suggested to be due to the inheritance of a susceptibility gene or genes. A family history of colon cancer has become an important stratification criteria for colon cancer screening programs. Colonoscopic screening is indicated for individuals with two or more FDRs with colon cancer or with one FDR in whom colon cancer developed under the age of 50 or so. If specific susceptibility genes for sporadic colon cancer are identified, it will be possible to target powerful primary preventive and screening programs to this high-risk population (susceptibility gene carriers).

Colorectal Neoplasms↗
PubMed1997

Genetics of breast cancer.

Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral breast cancer, an increasing risk in conjunction with increasing numbers of affected family members, and a strong association with ovarian cancer. At least eight candidate breast cancer susceptibility genes have been identified. Mutations in BRCA1, BRCA2, p53, and the Cowden disease gene are relatively uncommon, are highly penetrant, and produce striking familial clusters of breast cancer. BRCA1 and BRCA2 are the most important of these, accounting for an estimated 80% of hereditary breast cancer and 5 to 6% of all breast cancers. Specific BRCA1 and BRCA2 mutations are of particular importance in population subgroups, such as those identified among Jewish women of central European (Ashkenazi) origin. Mutations in the ataxia-telangiectasia gene and the rare HRAS1 variable number of tandem repeats polymorphisms are much more common but also much less penetrant. They do not produce dramatic familial aggregations of breast cancer but may prove to be responsible for a substantial proportion of all breast cancers if their epidemiologic association with breast cancer is confirmed. Predictive genetic testing for breast cancer risk is under way. Oncologists and primary-care physicians must become familiar with these genetic disorders and the issues surrounding predictive testing in order to make appropriate management decisions about women thought to have a high genetic risk of breast cancer.

Ataxia Telangiectasia↗
PubMed2006

DNA repair and cell cycle control genes and the risk of young-onset lung cancer.

Exposure to tobacco smoke and to mutagenic xenobiotics can cause various types of DNA damage in lung cells, which, if not corrected by DNA repair systems, may lead to deregulation of the cell cycle and, ultimately, to cancer. Genetic variation could thus be an important factor in determining susceptibility to tobacco-induced lung cancer with genetic susceptibility playing a larger role in young-onset cases compared with that in the general population. We have therefore studied 102 single-nucleotide polymorphisms (SNP) in 34 key DNA repair and cell cycle control genes in 299 lung cancer cases diagnosed before the age of 50 years and 317 controls from six countries of Central and Eastern Europe. We have found no association of lung cancer risk with polymorphisms in genes related to cell cycle control, single-strand/double-strand break repair, or base excision repair. Significant associations (P < 0.05) were found with polymorphisms in genes involved in DNA damage sensing (ATM) and, interestingly, in four genes encoding proteins involved in mismatch repair (LIG1, LIG3, MLH1, and MSH6). The strongest associations were observed with heterozygote carriers of LIG1 -7C>T [odds ratio (OR), 1.73; 95% confidence interval (95% CI), 1.13-2.64] and homozygote carriers of LIG3 rs1052536 (OR, 2.05; 95% CI, 1.25-3.38). Consideration of the relatively large number of markers assessed diminishes the significance of these findings; thus, these SNPs should be considered promising candidates for further investigation in other independent populations.

Adult↗
PubMed2003

[Frequency of genetic diseases and cancer antecedents in 493 adults with visceral or soft tissue sarcomas].

Little is known about epidemiology of adults soft tissue and visceral sarcomas (ASTS). The frequency of previous cancers and associated genetic diseases has been analyzed out of 493 ASTS, treated between 1997 and 2002 at Oscar Lambret Cancer Center. Median age is 51, sex ratio is close to 1. Liposarcomas and malignant fibrous histiocytofibromas are the two main types (respectively 104 and 86 cases). Upper and lower limbs are the two main locations (respectively 176 and 75 cases). Fifteen patients had associated genetic disease, including 12 cases of Recklinghausen diseases. 7 out of those 15 patients have neurosarcoma. 30 patients have previous cancers, including 7 breast cancers, 3 lymphomas and 3 chronic lymphocytic leukemias. Four out of those 30 patients have two different previous cancers. 13 patients have radiation-induced sarcomas, after an average 10-year-period, and an average dose of 53 Gy. Undifferenciated sarcomas are the main histologic type (8/13), followed by angiosarcomas (2/13). Radiation-induced sarcomas are located in the chest wall (7/13), in pelvis (2/13) and head and neck (2/13). Those sarcomas are high grade (10 grade III tumours). ASTS epidemiology is complex with different risk factors depending on histologic type.

Adolescent↗
PubMed2005

Biomarkers of genetic susceptibility to cancer: applications to epidemiological studies.

Cancer is a multifactorial disease in which both environmental and genetic factors play a role. Biological markers have been perceived as a great improvement in terms of understanding the biological mechanisms of the association between a risk factor and cancer. Genetic markers have been used very extensively in epidemiological studies, mainly with the purpose of identifying high-risk subjects because of their genetic make-up. This review describes some of the issues concerned with the use of genetic susceptibility markers in epidemiology, such as the interaction between genetic and environmental factors. Some aspects of study design are also discussed.

Animals↗
PubMed2005

In silico whole-genome scanning of cancer-associated nonsynonymous SNPs and molecular characterization of a dynein light chain tumour variant.

Last decade has led to the accumulation of large amounts of data on cancer genetics, opening an unprecedented access to the mapping of cancer genes in the human genome. Single-nucleotide polymorphisms (SNPs), the most common form of DNA variation in humans, emerge as an invaluable tool for cancer association studies. These genotypic markers can be used to assay how alleles of candidate genes correlate with the malignant phenotype, and may provide new clues into the genetic modifications that characterize cancer onset. In this cancer-oriented study, we detail an SNP mining strategy based on the analysis of expressed sequence tags among publicly available databases. Our whole-genome approach provides a comprehensive and unbiased description of nonsynonymous SNPs (nsSNPs) in tumoral versus normal tissues. To gain further insights into the possible relationships between genetic variation and altered phenotype, locations of a subset of nsSNPs were mapped onto protein domains known to be critical for protein function. Computational methods were also used to predict the potential impact of these cancer-associated nsSNPs on protein structure and function. We illustrate our approach through the detailed biochemical and structural characterization of a previously unknown cancer-associated mutation (G79C) affecting the 8 kDa dynein light chain (DNCL1).

Computational Biology↗
PubMed2004

Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients.

BACKGROUND AND AIMS: An accurate family history is an essential component of cancer risk assessment. Our aim was to determine the concordance of family history assessments made by physicians with patients' self-reports and the frequency of referral for genetic evaluation in high-risk colorectal cancer (CRC) patients. METHODS: A self-administered family cancer history questionnaire was completed by 387 consecutive CRC patients at their first visit to a gastroenterology cancer clinic. Physician notes from the first visit were reviewed to determine the concordance of the family cancer history with patients' self-reported history. Prevalence of individuals that satisfied the Bethesda guidelines for hereditary colon cancer were compared with actual rates of referral. Regression analyses were used to determine factors associated with a comprehensive physician evaluation of family history. RESULTS: Oncologists documented a comprehensive family history in 59% (184 of 311) of patients with a first- or second-degree relative with cancer. Young age at diagnosis and a first-degree relative with CRC were not associated with a more comprehensive family history assessment. An increasing number of cancers per family was a strong predictor of a less comprehensive family history assessment (odds ratio = 0.63; P < 0.0001). Seventy-five of 387 (19%) CRC patients met Bethesda guidelines for genetics assessment, however, only 13 of 75 (17%) were referred. CONCLUSIONS: Increased complexity in family cancer history leads to a decrease in accuracy of family history, suggesting the need for systematic approaches to facilitate family history assessment. Familial cancer risk remains largely unrecognized and referral rates for genetic evaluation for CRC syndromes are low.

Adult↗