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At least 19 recordsLinked to original sources
PubMed1975

Breast cancer genetics and cancer control. Tumor association.

Verified breast cancer was present in a father, his mother, and his daughter. His sone had a brain tumor (by history) and his grandson, (ehs sone of the affected daughter), had a histologically verified rhabdomyosarcoma. This familial aggregation of cancers (except for leukemia, which is absent) is consistent with a newly described familial breast cancer syndrome. A single pleiotropic, dominantly transmitted gene, possibly interacting with carcinogenic factors, such as an oncogenic virus, may be the cause. A cancer-control potential exists for tumor associations such as those exhibited in this kindred, as well as for other cancer genetic syndromes where careful consideration is given to all histologic varieties of cancer.

Adolescent↗
PubMed1976

Early age of onset in familial breast cancer. Genetic and cancer control implications.

Although breast carcinoma is the most frequently occurring cancer in American women and has been the subject of extensive epidemiologic investigation, little attention has been devoted to use of risk-factor information in its control. Six of our 52 breast-cancer-prone families have at least one woman who has manifested breast cancer at age 30 or earlier. One such family had two women with breast cancer before age 30, and at least ten others affected by age 50. Transmission of this lesion was consistent with autosomal-dominant mode of inheritance. Ages of onset indicated a notably early peak, in contrast with the expected pre- and post-menopausal peaks in findings of the New York State Tumor Resistry and others. Genetic and epidemiologic information should be utilized to control breast cancer in certain families.

Adolescent↗
PubMed1990

Cancer genetics and cancer suppression.

Identification of normal growth and differentiation-inducing proteins and how they interact in normal development has made it possible to identify the molecular basis of normal development and the mechanisms that uncouple growth and differentiation so as to produce malignant cells. When normal cells have been changed into cancer cells, the malignant phenotype can again be suppressed. Results on the molecular control of growth and differentiation in normal myeloid hematopoietic cells, changes in the normal developmental program in myeloid leukemia, and the suppression of malignancy in myeloid leukemia and sarcomas have shown that (1) malignancy can be suppressed either with or without genetic changes in the malignant cells, (2) suppression of malignancy by inducing differentiation does not have to restore all the normal controls, and (3) genetic abnormalities which give rise to malignancy can be bypassed and their effects nullified by inducing differentiation which stops cells from multiplying.

Cell Differentiation↗
PubMed2026

Double heterozygous germline pathogenic variants in patients referred to a tertiary cancer genetics clinic in Singapore.

BACKGROUND: The increasing use of multigene panel testing has led to a rise in the identification of double heterozygous (DH) pathogenic variants in cancer patients, although their frequency and clinical relevance remain poorly characterised, particularly in Asian populations. METHODS: We conducted a retrospective review of 5,178 patients referred to a tertiary cancer genetics clinic in Singapore. DH pathogenic variants were defined as the presence of two or more distinct pathogenic or likely pathogenic germline variants identified by multigene panel testing. Clinical, pathological, and family history data were reviewed and analysed using appropriate non-parametric and exact statistical methods. RESULTS: Among 2,802 index patients with available genetic test results, 593 (21.2%) carried at least one pathogenic/likely pathogenic variant. DH pathogenic variants were identified in 21 individuals (0.75%), of which 9 were patients with breast cancer, 10 with non-breast malignancies, and 2 were cancer-free. The frequency of multiple primary cancers was 26.3% in DH variant carriers, 23.3% in single variant carriers, and 16.5% in those with no pathogenic variants. The median ages of first cancer diagnosis were 47, 44, and 48 years. Several DH combinations involved moderate- or low-penetrance genes, and some clinically unsuspected variants were detected only through broad multigene testing. CONCLUSION: DH pathogenic variants represent a rare subgroup that is increasingly detected through multigene panel testing. Their phenotypic expression is variable, and the influence of additional pathogenic variants remains uncertain. Our findings emphasise the need for tailored genetic evaluation and further research to guide evidence-based management for this complex patient population.

Asia↗
PubMed1979

Family history in an oncology clinic. Implications for cancer genetics.

Detailed family histories of cancer were solicited from 200 consecutively ascertained cancer patients undergoing treatment in an oncology clinic. Approximately 18% had two or more first-degree relatives with cancer of any anatomic site. In several cases, striking familial aggregations of cancer fulfilled more rigorous criteria for hereditary cancer syndromes, including early age at onset of generally late-occurring tumors, characteristic tumor patterns, vertical transmission, and collateral family lines similarly afflicted. Review of preexisting clinic charts demonstrated that, in most cases, the family history of cancer had been either omitted altogether, reported as negative despite substantial evidence to the contrary, or, if noted as positive, not pursued or acted on. Family history can be more successfully utilized in recognition of suggestive familial cancer aggregations, ultimate identification of hereditary cancer syndromes, and control of cancer in clinical practice.

Adolescent↗
PubMed2026

[BRCA1 Gene's Mutations And Hereditary Breast Cancer: Genetic, Biological, And Clinical Aspects].

INTRODUCTION: Hereditary breast cancer accounts for approximately 5 to 10% of all breast cancer cases. Mutations in the BRCA1 gene, which plays a central role in DNA repair and cell cycle regulation, are the main cause of these familial forms and are strongly associated with aggressive subtypes, particularly triple-negative breast cancer. METHODS: A narrative literature review was conducted using biomedical databases (PubMed, Scopus, Web of Science, Google Scholar) between January 2024 and June 2025. Eligible publications addressed the genetic, biological, epidemiological, and clinical aspects of BRCA1 in hereditary breast cancer. RESULTS: BRCA1 ensures genomic stability through its roles in DNA repair, cell cycle checkpoints, and transcriptional regulation. Most mutations are truncating or missense variants, with some reported as founder mutations (e.g., c.68_69delAG, c.5266dupC, 943ins10). Women carrying germline BRCA1 mutations have an estimated lifetime risk of 56-87% of developing breast cancer, with a strong association with aggressive molecular subtypes, especially triple-negative breast cancer. CONCLUSION: A comprehensive understanding of BRCA1 mutations is crucial to enhance prevention, screening, and personalized management of hereditary breast cancer. In low-resource settings, the integration of genetic testing and counseling remains a major challenge and a public health priority to reduce disparities in cancer care.

Humans↗
PubMed1992

Colorectal cancer genetics.

Due to the accessibility of the intermediate steps in the progression of colorectal cancer and to the existence of heritable susceptibility to the disease, molecular genetic analysis of colorectal carcinogenesis seems likely to answer many of the questions concerning the fundamental nature of the common human epithelial cancers. Several genetic events appear to be required and, although there is no stringent adherence to any particular sequence of events, the accumulation of genetic defects does show some loose order. Each event must confer growth advantage in order to allow further clonal expansion. Such expansion then makes further events at other crucial loci more likely. Hence, the process proceeds until the tumour is capable of the destructive growth, infiltration and metastasis characteristic of malignancy. This review summarises recent important progress in our understanding of both constitutional and somatic molecular genetic events involved in the development of colorectal cancer. Germline changes responsible for syndromes, such as Familial Adenomatous Polyposis, which result in predisposition to large bowel neoplasia are discussed. The possibility that heritable mutations in tumour suppressor genes might confer susceptibility to apparently sporadic colorectal cancer is proposed.

Adenomatous Polyposis Coli↗
PubMed1992

Colon cancer genetics.

The terms "hereditary," "sporadic," and "familial" colorectal cancer (CRC) suggest a knowledge of causation; however, current understanding of CRC does not permit categorization of differing CRC risks in accord with their cause per se. Despite these serious shortcomings, these terms are defined operationally on the basis of a family history of cancer, and when available, additional phenotypic information. The sporadic type occurs in the absence of a family history of CRC in a first-degree relative. The familial type occurs when at least one first-degree relative has CRC. Both these categories require the exclusion of hereditary CRC. In the case of hereditary CRC, this type is defined as a family history of CRC occurring in a pattern that indicates autosomal-dominant inheritance, which also may involve certain phenotypic signs (depending on the specific disorder, i.e., florid adenomatous polyps, benign and malignant extracolonic lesions, cancer of unusually early onset, and multiple primary cancer, particularly synchronous and metachronous CRC). Although this operational classification does not produce etiologically homogeneous groups, it is believed to have pragmatic utility with respect to planning targeted surveillance and management strategies. Because of the distinctive natural history of CRC in hereditary syndromes, it is of paramount clinical importance to identify hereditary CRC when it does occur. Even in patients with no evidence of hereditary CRC syndrome, their family history may be second only to age in determining the best CRC screening program for those who are asymptomatic. In an attempt to provide a perspective on the clinical evaluation of CRC risk, research was reviewed on pathologic features and biomarkers that may be related to CRC causes, especially the genetic basis of CRC susceptibility. The long-term objective of studies on the genetic epidemiology of CRC is primary and secondary prevention through development of targeted management and surveillance recommendations (based on an understanding of CRC causation) that is relevant to hereditary, familial, and sporadic CRC.

Adult↗
PubMed1990

Cancer models and cancer genetics.

There have been many attempts to develop stochastic multistage models for cancer. The models relate hypothesized biological processes occurring at the cellular level to the occurrence of tumors at the experimental or epidemiologic level of individuals in a population. The existing models fit a variety of data, but none is fully satisfactory and they are in some ways inconsistent with each other. Recently, substantial new data have become available on the nature of cancer-associated mutations observed directly at the cellular level. These data suggest that the number of stages may be greater and more variable among individual tumors of the same organ than has been thought. There may be many pathways to cancer, and the mutations responsible may not constitute a fixed set or sequence. This pattern resembles the genetics of quantitative rather than qualitative traits, and may also be consistent with the variable histology and behavior of tumors of a given organ. Simulations using such models suggest that cancer in the general population may have such heterogeneous etiology, a possibility that has important implications for screening, risk projection, and prevention. Risk-generating processes of a rather generic kind may generate similar hazard functions for diverse chronic diseases in the age ranges often used in epidemiologic studies. This phenomenon raises questions about the purpose and interpretation of statistical epidemiologic models.

Humans↗
PubMed2026

Interpreting cancer genetics through a two-step "evolutionary cascade hypothesis": bridging neutral and selective perspectives.

BACKGROUND: DNA mutations are the fundamental engines of cancer, driving its initiation and progression. The forces that fuel malignancy are also the architects of evolution, shaping life through genetic variations. Mutations, in fact, can emerge naturally from endogenous processes, such as oxidative DNA damage or errors in replication, as well as induced by external factors, including cosmic radiation and chemical carcinogens. MAIN BODY: A key question in cancer research is whether tumor evolution is primarily governed by selective bottlenecks, neutral evolution, or dynamic genetic plasticity. In this work, we examine cancer as a disease driven by evolutionary processes rooted in fundamental biological requirements, including sustained proliferation and nutrient utilization. We hypothesize that the accumulation of mutations activates an evolutionary switch, enabling tumor cells to acquire an enhanced capacity for survival, adaptation, and growth at rates far exceeding typical evolutionary timescales. We propose the "evolutionary cascade hypothesis," a unifying framework that integrates these models into a coherent sequence. At its core lies the failure of DNA repair mechanisms, representing a critical transition in cancer progression. This shift marks the transition from an initial non-Darwinian, neutral phase to a Darwinian, more deterministic phase. CONCLUSIONS: As predictive models of tumor evolution advance through genomic big data and artificial intelligence-driven analysis, the future of cancer treatment may extend beyond targeting individual mutations to disrupting the underlying evolutionary mechanisms that sustain malignancy. This paradigm shift could redefine therapeutic strategies and ultimately improve patient outcomes.

Humans↗
PubMed2026

Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non-Urological Complications.

BACKGROUND: Chronic nonurological complications are common among prostate cancer (PCa) survivors; however, their spectrum, magnitude, and genetic contribution remain poorly characterized. METHODS: We evaluated 15 commonly reported nonurological complications and tested their associations with exposure to PCa and disease-specific polygenic risk scores (PRS) in the UK Biobank (UKB; N&#x2009;=&#x2009;219,133). Analyses were conducted using cause-specific Cox proportional-hazards models within a full-cohort framework with time-updated PCa status, delayed entry at study recruitment, and age as the underlying time scale. RESULTS: After recruitment, incident PCa was diagnosed in 13,780 men, of which 1,656 (12.02%) had metastatic PCa (mPCa). Risks for seven complications were higher among men with PCa, adjusting for genetic background (all p&#x2009;<&#x2009;0.05), including osteoporosis, venous thromboembolism, depression, and four primary cancers (bladder, kidney, colorectal, and pancreatic). Risks were consistently stronger among men exposed to mPCa than non-mPCa; for example, the hazard ratio (HR) (95% confidence interval) for osteoporosis was 1.88 (1.63-2.18) for any PCa, 4.67 (3.11-7.01) for mPCa, and 1.75 (1.50-2.04) for non-mPCa. Elevated risks for three additional complications (coronary artery disease, type 2 diabetes and chronic obstructive pulmonary disease) were observed only among men with mPCa. The risks for these ten complications were further increased among men with higher disease-specific PRS; for example, the HR for osteoperosis in mPCa patients in the top PRS quartile was 13.57 (8.24-22.34) compared with men without PCa (p&#x2009;<&#x2009;0.001). CONCLUSION: PCa diagnosis and inherited genetic susceptibility jointly contribute to increased risks of multiple chronic non-urological complications among survivors.

Humans↗
PubMed1992

Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancers: the role of local immunosurveillance.

Epidermodysplasia verruciformis (EV) presents a genetically determined, unusual susceptibility to infection with EV-specific human papillomaviruses (HPVs) related to abrogation of immunosurveillance exclusively against these viruses. The cutaneous viral carcinogenesis depends upon potentially oncogenic HPVs, the cocarcinogenic effect of ultraviolet irradiation, and genetic host factors, presumably a defect of anti-oncogenes or alleles of major histocompatibility complex and tumor necrosis factor locus involved in antigen presentation.

Epidermodysplasia Verruciformis↗
PubMed1975

Elevated ribonuclease activity in the thymus and white blood cells of genetically cancer prone mice.

Ribonuclease activity in cell-free thymus homogenates was elevated for five strains of mice genetically predisposed toward leukemia or reticulum cell neoplasms (AKR, C58, PL, RF, and SJL). Such increased activity was directed against polyuridylic acid and was observed in 8-wk old mice, well before the onset of neoplastic transformation. Similarly, white blood cell ribonuclease activity was elevated in mice of the strains AKR, C2H/He, PL and RF. Statistical analysis indicated that such elevated activity in these strains related to their high incidence of spontaneous neoplastic disease. Elevated ribonuclease activity thus represents a new biochemical marker relating to the genetic propensity of some strains of mice to die prematurely of spontaneous neoplasia.

Animals↗