I know that genetic diseases such as cystic fibrosis are often passed down through generations and are therefore classified as genetic disorders, but if a mutation occurs spontaneously, which for example leads to cancer, is this then classified as a genetic disorder?


Are all genetic disorders inherited?

Not all individuals with a genetic disorder inherited that disorder. Some genetic disorders are caused by spontaneous mutations.

Is cancer a genetic disorder?

Yes. The seminal paper by Hanahan and Weinberg, the Hallmarks of Cancer, is a good place to go to get a sense of what we understand cancer to be. This paper is quite influential and has its own wikipedia page. These authors wrote an updated review in 2011. Re: your question as it relates to cancer, yes, genetic changes result in tumorigenesis. Cancer is a genetic disorder of cell populations. One can view cancer diagnosis and treatment from the framework of cancer as a metabolic disease, but this adds to, rather than subtracts from the framework of cancer as a genetic disease.

Are other diseases caused by spontaneous mutations genetic disorders?

Yes. Achondrodysplasia is one illuminating example. It is a form of dwarfism caused by a mutation in the FGFR3 gene. It does follow mendelian autosomal dominant inheritance patterns, but in 80% of cases, the mutation is, in fact, acquired spontaneously (that is, not present in either parent). As noted by @Eff in the comments, Down syndrome, Trisomy 21 (and other chromosomal abnormalities, e.g., Turner, Kleinfelter, Patau, Edwards) are other common examples.

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  • $\begingroup$ Down syndrome is a similar genetic disorder that isn't inherited right? $\endgroup$ – Eff Mar 6 '19 at 11:20
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    $\begingroup$ Yes, there are many examples $\endgroup$ – De Novo Mar 6 '19 at 12:34
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    $\begingroup$ Down syndrome can be heritable, but most cases are spontaneous. $\endgroup$ – swbarnes2 Mar 6 '19 at 16:49
  • $\begingroup$ @swbarnes2 yes, cancer, down syndrome, and achondrodysplasia are three examples of genetic disease that can be heritable but are spontaneous in most cases. $\endgroup$ – De Novo Mar 6 '19 at 16:51
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    $\begingroup$ Great answer, though I'd personally recommend expanding the "yes" you start off the answer with, since the question in the title and the question in the body lead to different conclusions from a simple "yes." Just a bit confusing. $\endgroup$ – rotaredom Mar 6 '19 at 16:58

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