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Compared to other recessive disorders, MUTYH-associated Polyposis is unusual in that:
1. Phenotype is adult-onset
2. Cancer risk is high without intervention
3. Heterozygous variants in MUTYH may be frequently picked up incidentally (e.g. pan-cancer predisposition panels)
Please find UKCGG statement below outlining recommendations for partner testing.
In brief:
Testing of reproductive partner(s) of a carrier of a MUTYH variant(s) is not typically recommended unless
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1. The couple is consanguineous OR
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2. The partner is of Gujarati heritage
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AND
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3. The result would influence family planning/reproductive decision making AND/OR
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4. The result would inform clinical management and/or surveillance for their children
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Extent of testing
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Where partner testing is indicated for individuals in consanguineous relationships, targeted testing for the familial variant should be offered.
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Where partner testing is indicated for individuals of Gujarati heritage, targeted testing for the recurrent variant c.1438G>T (p.Glu480Ter) should be offered.
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Eligibility for broader testing (full sequencing of MUTYH and other relevant cancer/polyposis predisposition) should be considered for partners with a relevant personal/family phenotype.
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