• Cancer syndrome transmitted in a Mendelian autosomal dominant



    In 1865-1866 the work of Gregor Mendel about the transmission of hereditary characteristics was left aside until 1990, when its controversial work about genetics was discovered “again”. His work is about primary tenets which are related to the genetic transmission from parents to children. It research has different names such as Mendelian inheritance, Mendelian genetics and Mendelism. But, what's the relation between this geneticist and Cancer Syndrome? Well, cancer predisposition is inherited from parents to children.

     

    Cancer syndrome is the genetic predisposition an individual has to develop cancer later in life. This predisposition is inherited when one of the parents has an affected chromosome, meaning that an autosomal dominant chromosome is mutated and the change will pass to the following generations. This is the way how parents and children suffer from the same diseases at any moment of their lives, is like having your mother's eyes and your father's laugh, all good and not so good characteristics are inherited.

     

    Cancer syndrome is a silent growing disease, just like a thief at night. Dominance of a chromosome is described as the relationship between different forms (allele) of a gene at a particular physical location on a chromosome. The allele that marks the other is said to be dominant to the latter and autosomes are the remaining pairs of chromosome which are found in both sexes genetic traits. This tells us that one pair of chromosomes unrelated to sex can have a mutated form, and that the affected gene can pass from generation to generation.

     

    The most frequent instance is: Aa x AA, which is the marriage of an affected individual HEZ (heterozygous) with a normal individual. A germline mutation is any detectable and heritable variation in the lineage of germ cells which predisposes the individual to the development of the cancer. A mutation in the second allele results in the development of cancer since only one allele needs to be mutated, so the individual has a higher chance to develop cancer compared to the general population.

     

    Autosomal Dominant inheritance is a pattern of inheritance in which a trait will be expressed if the gene is inherited from either parent. This is what Mendel wanted to prove since the first moment, a close relationship among parents, their descendants, and the diseases both share. This is why screening tests all early ages are so important, specially if two or more family members have suffered or died from any kind of cancer. The presence of mutated cells at early stages give the chance to overcome cancer.