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Hereditary cancer syndromes (HCS) account for 5–10% of all cancer. Most patients at risk of HCS will report a family history of cancer and some may know the cause of the family history due to the identification of a pathogenic gene mutation. For young patients with a diagnosis of cancer, genetic investigations can inform cancer treatment, fertility preservation and cancer prevention through surveillance and/or risk-reducing measures. However, patients with HCS also have specific issues related to their reproductive options.1,2


Patients with young-onset cancer consistent with HCS may report a family history of associated cancer(s). The patient or their family member(s) may also have bilateral tumours, multiple primary cancers in an individual or have a specific histological cancer sub-type for which genetic investigations are warranted. Figure 11.1 represents a hereditary breast and ovarian cancer syndrome history, with the proband harbouring a BRCA1 mutation after developing a ‘triple-negative receptor’ breast cancer. Once a pathogenic mutation has been identified in a patient, their at-risk relatives can access predictive genetic testing to determine their personal risks and options of additional screening or risk-reducing surgery.

Figure 11.1

Family tree of hereditary breast and ovarian cancer syndrome caused by a BRCA1 mutation. The majority of the common HCS are inherited in an autosomal dominant manner, leading to a 1 in 2 chance (50% risk) of the pathogenic gene mutation being passed to offspring, with only a few syndromes being transmitted in an autosomal recessive inheritance pattern as outlined in Table 11.1.

Table 11.1Common hereditary cancer syndromes

Despite technological advances, genetic test results are also not always straightforward. A broad approach to genetic testing can reveal unclear or incidental findings that may lead to uncertainty for patients. Genetic investigations ...

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