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The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes

European Journal of Human Genetics volume 30, pages 260–261 (2022)Cite this article

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The Original Article was published on 04 January 2022

Occam’s razor or the principle of parsimony states that in front of a problem, the simplest explanation is to be preferred. This law is attributed to English Franciscan friar William of Ockham, a philosopher and theologian of the 13th century, and it is used for instance in the scientific method or when facing a clinical diagnosis.

Mendelian inheritance follows the principles originally proposed in 1865 by Gregor Mendel, another friar, Augustinian in this case, and considered one of the founders of modern genetics. A Mendelian trait is one that is controlled by a single locus in an inheritance pattern. In such cases, a mutation in a single gene can cause a disease that is inherited according to Mendel’s principles. Dominant diseases manifest in heterozygous individuals. Recessive ones are sometimes inherited unnoticeably by genetic carriers. Indeed, Mendelian inheritance has been the Occam’s razor for many years in the field of germline predisposition to disease. The Online Mendelian Inheritance in Man (OMIM, https://omim.org/) database contains information on all known Mendelian disorders and over 16,000 genes.

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  1. Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Gastroenterology Department, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), University of Barcelona, Barcelona, Rosselló 153, Barcelona, 08036, Spain

    Sergi Castellví-Bel

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  1. Sergi Castellví-Bel
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Correspondence to Sergi Castellví-Bel.

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Castellví-Bel, S. The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes. Eur J Hum Genet 30, 260–261 (2022). https://doi.org/10.1038/s41431-021-01031-4

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  • DOI: https://doi.org/10.1038/s41431-021-01031-4

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