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Are Genetic Disorders Associated With Leukemia Risk?

Posted on April 20, 2022
Medically reviewed by
Richard LoCicero, M.D.
Article written by
Alicia Adams

Although scientists continue their research, the exact causes of leukemia have not been found. However, there are risk factors that are associated with the disease. A risk factor is something that increases the chance of developing a condition. For example, people who are exposed to cigarette smoke, those who are male, and those who are older have a higher risk of developing leukemia.

Only about 5 percent of leukemia cases are thought to involve inherited genes. Research has shown several genetic disorders that raise the risk of developing leukemia.

What Are Genetic Disorders?

A genetic disorder is a disease that develops due to a harmful mutation in the body’s DNA. DNA is the molecule that carries the instructions that explain how a person will look and how their cells will function. DNA mutations can make a single gene or many genes (a section of DNA) abnormal. These gene changes can be inherited (meaning the mutation came from a parent) or acquired (the mutation occurred at a later point in life).

Gene changes that lead to genetic disorders can also affect entire chromosomes — large DNA molecules that contain many genes. Humans have a total of 23 pairs of chromosomes. One of those pairs comes from the father (Y chromosome) and one pair is from the mother (X chromosome). Some genetic disorders occur when a person has too many or too few chromosomes.

Which Genetic Disorders Are Associated With Leukemia?

Several genetic disorders have been identified as raising the risk for different types of leukemia:

  • Down syndrome
  • Klinefelter syndrome
  • Fanconi anemia
  • Bloom syndrome
  • Ataxia-telangiectasia
  • Neurofibromatosis
  • Family cancer syndrome

Down Syndrome

Down syndrome is a genetic disorder that is usually caused by the presence of three copies of chromosome 21 instead of the usual two copies. Children with Down syndrome have a greater risk of developing acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) than other children.

Klinefelter Syndrome

Klinefelter syndrome is a genetic condition in which a boy is born with an extra copy of the X chromosome. Males who have Klinefelter syndrome have a higher chance of developing ALL as well as other diseases such as breast cancer and non-Hodgkin lymphoma.

Fanconi Anemia

Fanconi anemia is a rare inherited disorder that is caused by one of 16 different gene mutations. Research shows that people with this disorder are at greater risk of developing AML.

Bloom Syndrome

When a person inherits mutations in the BLM gene, the result is an increased risk of several types of cancer including ALL and AML.

Ataxia-Telangiectasia

Ataxia-telangiectasia is a genetic disorder that affects the nervous and immune systems as well as increases the risk of developing certain types of cancer, particularly leukemia.

Neurofibromatosis

Neurofibromatosis is a group of inherited genetic disorders that can lead to the onset of several types of cancer, one of which is ALL.

Family Cancer Syndrome

When an abnormal gene is passed from generation to generation, it can lead to higher-than-normal risks for certain types of cancers. Also called hereditary cancer syndromes or inherited cancer syndromes, family cancer syndromes can lead to many cases of the same kind of cancer within a given family.

Examples of these diseases include hereditary breast and ovarian cancer as well as hereditary leukemia such as AML and myelodysplastic syndrome, a condition where the bone marrow produces too many immature cells and not enough healthy ones.

Li-Fraumeni syndrome is another family cancer syndrome that can lead to a higher risk of several types of cancer including leukemia. The disorder is most often caused by a mutation in the gene that helps stop the uncontrolled growth of abnormal cells.

Talk With Others Who Understand

MyLeukemiaTeam is the social network for people with leukemia and their loved ones. On MyLeukemiaTeam, more than 10,000 members come together to ask questions, give advice, and share their stories with others who understand life with leukemia.

Do you still have questions about how leukemia can be related to specific genetic disorders? Share your experience in the comments below, or start a conversation by posting on your Activities page.

References
  1. Definition of Bone Marrow — Merriam-Webster Medical Dictionary
  2. Leukocyte — National Cancer Institute
  3. Function of White Blood Cells — Cleveland Clinic
  4. The Immune System and Cancer — Cancer Research UK
  5. Leukemia — MedlinePlus
  6. Types of Leukemia — Memorial Sloan Kettering Cancer Center
  7. Definition of Acute — National Cancer Institute
  8. Definition of Chronic — Merriam-Webster Medical Dictionary
  9. Definition of Risk Factor — Merriam-Webster Medical Dictionary
  10. Smoking and Subsequent Risk of Leukemia in Japan: The Japan Public Health Center-Based Prospective Study — Journal of Epidemiology
  11. Acute Lymphocytic Leukemia — MedlinePlus
  12. Leukemia — StatPearls
  13. Incidence of Leukemia in Atomic Bomb Survivors Belonging to a Fixed Cohort in Hiroshima and Nagasaki, 1950-71: Radiation Dose, Years After Exposure, Age at Exposure, and Type of Leukemia — Journal of Radiation Research
  14. Risk of Leukemia After Chemotherapy and Radiation Treatment for Breast Cancer — New England Journal of Medicine
  15. Benzene and Leukemia: From Scientific Evidence to Regulations. A Historical Example — La Medicina del Lavoro
  16. Human T-Cell Leukemia Virus Type 1 — National Institute of Health
  17. Correlations Between Epstein-Barr Virus and Acute Leukemia — Journal of Medical Virology
  18. Genetic Disorders — National Human Genome Research Institute
  19. Definition of DNA — Merriam-Webster Medical Dictionary
  20. Changes in Genes — American Cancer Society
  21. Definition of Chromosome — Merriam-Webster Medical Dictionary
  22. Definition of Down Syndrome — Merriam-Webster Medical Dictionary
  23. Leukemia Risk in a Cohort of 3.9 Million Children With and Without Down Syndrome — The Journal of Pediatrics
  24. Klinefelter Syndrome — Mayo Clinic
  25. Risk of Solid Tumors and Hematological Malignancy in Persons with Turner and Klinefelter Syndromes: A National Cohort Study — Wiley Online Library
  26. Fanconi Anemia and the Development of Leukemia — Best Practice & Research Clinical Haematology
  27. Bloom Syndrome — MedlinePlus
  28. Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition — Molecular Syndromology
  29. Definition of ​​Ataxia-Telangiectasia — Merriam-Webster Medical Dictionary
  30. Chromosome Changes Connect Immunodeficiency and Cancer in Ataxia-Telangiectasia — American Journal of Pediatric Hematology/Oncology
  31. Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020 — JAMA Network Open
  32. Hereditary Cancer Syndromes — The University of Texas MD Anderson Cancer Center
  33. Myelodysplastic Syndrome — The University of Texas MD Anderson Cancer Center
  34. Family Cancer Syndromes — American Cancer Society

All updates must be accompanied by text or a picture.
Richard LoCicero, M.D. has a private practice specializing in hematology and medical oncology at the Longstreet Clinic Cancer Center, in Gainesville, Georgia. Review provided by VeriMed Healthcare Network. Learn more about him here.
Alicia Adams is a graduate of Ohio State University and worked at their medical research facilities supporting oncology physicians and investigators. Learn more about her here.

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