Hereditary factors
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Hereditary Factors in Disease Susceptibility
Hereditary Factors in Rheumatic Diseases
Hereditary factors play a significant role in the susceptibility to various rheumatic diseases, including rheumatoid arthritis and ankylosing spondylitis. Early studies by Fox and van Breemen (1934) and Hangarter (1938) highlighted the familial occurrence of these conditions, suggesting a "rheumatic diathesis" within families1. More recent investigations, such as those by Stecher (1957), have emphasized the importance of meticulous diagnosis and the presence of specific hereditary mechanisms in different forms of articular rheumatism1. However, it is crucial to note that hereditary factors alone do not determine the manifestation of these diseases; other endogenous and exogenous factors also play a role1.
Genetic Contributions to Cancer
Hereditary Factors in Colorectal Cancer
Hereditary factors account for approximately 35% of colorectal cancer (CRC) risk, with nearly 30% of the UK population having a family history of CRC6. Genetic syndromes such as familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) significantly increase the risk of CRC7. Genetic testing has become an invaluable tool for diagnosing and assessing cancer risk in suspected hereditary cases, allowing for targeted risk-reducing interventions like endoscopic surveillance and preventative surgery6 7.
Hereditary Breast Cancer
Approximately 20% of hereditary breast cancers are attributable to pathogenic variants in the BRCA1 and BRCA2 genes10. Other genes, including ATM, CHEK2, and PALB2, also contribute to breast cancer susceptibility10. Polygenic risk, which involves carrying multiple low-penetrance breast cancer susceptibility alleles, further adds to the hereditary risk10. Understanding these genetic factors is crucial for molecular testing and therapeutic decision-making in hereditary breast cancer cases10.
Hereditary Prostate Cancer
Family history significantly influences the risk of prostate cancer, particularly early-onset disease4. Dominantly inherited susceptibility genes with high penetrance are responsible for 5% to 10% of all prostate cancer cases and up to 30% to 40% of early-onset cases4. Although hereditary prostate cancer is diagnosed earlier than sporadic cases, it does not differ clinically from nonhereditary forms, underscoring the importance of screening in families with hereditary disease4.
Hereditary Factors in Major Psychoses
Psychotic disorders have long been observed to run in families, suggesting a hereditary component5. Although Freudian psychiatry once attributed mental illness primarily to environmental factors, recent genetic research has reaffirmed the significant role of heredity in major psychoses5. This renewed interest has led to the collection of substantial new data, enhancing our understanding of the genetic underpinnings of these disorders5.
Conclusion
Hereditary factors significantly influence the risk and manifestation of various diseases, including rheumatic conditions, cancers, and psychotic disorders. While genetic predisposition plays a crucial role, it is often the interplay between hereditary and environmental factors that determines disease onset and progression. Advances in genetic research and testing continue to improve our ability to diagnose, assess risk, and implement targeted interventions for hereditary diseases.
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Most relevant research papers on this topic
Hereditary Factors in Rheumatoid Arthritis and Ankylosing Spondylitis
Hereditary factors may play a role in the familial occurrence of rheumatoid arthritis and ankylosing spondylitis, but other factors also influence the actual appearance of these diseases.
Highly CitedEnvironmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland.
Inherited genetic factors contribute minimally to cancer susceptibility, with environmental factors playing a principal role in causing sporadic cancer.
Observational StudyHighly CitedHereditary Predisposition to Cancer
Hereditary and environmental factors influence cancer risk, with four risk categories (hereditary, environmental, interactive) for a particular cancer, and most cancers exist in dominantly heritable forms.
Highly CitedHereditary prostate cancer: clinical aspects.
Hereditary prostate cancer is the strongest risk factor and screening is crucial for reducing mortality in families with hereditary disease.
Systematic ReviewHighly CitedIMPORTANCE OF HEREDITARY FACTORS IN THE MAJOR PSYCHOSES
Hereditary factors play a significant role in the development of major psychoses, with a faulty family environment being a secondary cause.
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)
This updated guideline provides evidence-based recommendations for managing hereditary colorectal cancer risk, focusing on targeted screening, surveillance, and preventative surgery.
Systematic Review
Rigorous JournalHighly CitedGenetics of hereditary colorectal cancer.
Genetic testing is a valuable tool for diagnosing and assessing colorectal cancer risk in individuals with hereditary colorectal cancer syndromes.
Hereditary Factors in Partial Epilepsy
In an effort to characterize the hereditary factors in the non‐generalized epilepsies, a study was made of 51 cases of partial epileptic seizures occurring in subjects whose family included at least one other epileptic. It was possible to classify these cases into five groups, viz.:
Observational StudyHereditary colorectal cancer.
Hereditary factors in cancer have been identified, but clinicians have not yet translated this knowledge into improved patient outcomes.
Highly CitedHereditary breast cancer: syndromes, tumour pathology and molecular testing
Hereditary factors contribute significantly to breast cancer risk, with 20% of cases attributable to pathogenic variants in BRCA1 and BRCA2, and other genes and predisposition syndromes.
Rigorous Journal