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Invasive breast carcinoma - IARC

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CHAPTER 8<br />

Inherited Tumour Syndromes<br />

Inherited cancer susceptibility is now recognized as a significant<br />

risk for cancer of the <strong>breast</strong> and female genitals organs.<br />

For many inherited tumour syndromes, the underlying germline<br />

mutations have been identified. This allows genetic testing and<br />

counseling of at risk family members and to estimate the asso -<br />

ciated disease burden. The genetic basis involves mutational<br />

inactivation of tumour supressor and DNA repair genes. Such<br />

germline mutations follow a mendelian inheritance pattern and<br />

usually confer substantial cancer risks, with <strong>breast</strong> and ovary<br />

as most frequent target organs. Additional familial aggregations<br />

have been observed but the responsible genes have not<br />

yet been identified and may involve multigenic traits.

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