Significance of defining a pathogenic variant in hereditary cancer syndrome

Kwong-Kwok Wong

Abstract


With the advances in cancer genetics, over 200 hereditary cancer susceptibility syndromes have been described. About 5%–10% of all cancers are caused by hereditary mutations. The most common syndromes are those associated with breast, ovarian and gastrointestinal cancers. The hereditary pattern of stomach and endometrial cancer was first reported by Warthin in 1931. In 1966, Lynch and colleagues reported studies of two extended pedigrees with a similar hereditary pattern of multiple carcinomas and this was designated a cancer family syndrome. This condition was subsequently called hereditary nonpolyposis colorectal cancer (HNPCC). However, the term “Lynch syndrome” has been commonly used to describe this condition since 1984.

Keywords


Lynch syndrome; ClinVar; pedigree analysis; endometrial cancer; MLH1 gene variants

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References


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DOI: http://dx.doi.org/10.30564/amor.v3i3.117

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