Rare Hematology News

Disease Profile

Anal cancer

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Cancer of the anus


Rare Cancers


Anal cancer is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the anus. Signs and symptoms of the condition include rectal bleeding; a lump in or near the anus; anal pain; itching; changes in bowel habits; and/or swollen lymph nodes. In most cases, the underlying cause of anal cancer is unknown. There appears to be a link between anal cancer and the human papillomavirus (HPV) infection. Other risk factors for anal cancer include HIV infection, sexual activity, smoking, and a weakened immune system. The best treatment options for anal cancer depend on many factors including the stage of the condition, the location of the tumor and if there are associated conditions (i.e. HIV) but may include surgery, chemotherapy, and radiation therapy.[1][2][3]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The American Cancer Society provides information on Anal cancer. Please click on the link to access this resource.
    • The Mayo Clinic Web site provides further information on Anal cancer.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Anal cancer. Click on the link to view a sample search on this topic.


        1. Anal Cancer. MedlinePlus. October 2014; https://www.nlm.nih.gov/medlineplus/ency/article/007652.htm.
        2. Anal Cancer Treatment (PDQ®)–Patient Version. National Cancer Institute. May 2015; https://www.cancer.gov/types/anal/patient/anal-treatment-pdq#section/_1.
        3. Anal Cancer. American Cancer Society. January 2016; https://www.cancer.org/acs/groups/cid/documents/webcontent/003083-pdf.pdf.