UKCGG statement regarding carrier testing for partners of carriers of (likely) pathogenic variants in MUTYH

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. The frequency of MUTYH variants in individuals of White European ancestry is likely more frequent than the 1 in 70 threshold at which partner testing for recessive traits currently recommended by NHSe Genomic testing directory

4. Heterozygous variants in MUTYH may be frequently picked up incidentally (e.g. pan-cancer predisposition panels) 

Please find UKCGG statement here below outlining recommendations for partner testing. 

In brief:

• Carrier testing for MUTYH should be prioritised for partners of patients with MAP (ie, biallelic carriers)
• Testing should not be limited to recurrent variants (ie, full gene sequencing should be undertaken)
  Testing should be offered irrespective of the ethnicity of the partner, given that the carrier frequency in populations outside of white Europeans is not well established
• Full MUTYH gene testing may be offered directly to children of patients with MAP in the event that their other parent is not available for carrier testing.
• Carrier testing should not routinely be offered to partners of heterozygotes in the absence of consanguinity or a personal or family history of polyposis or colorectal cancer, particularly if reproductive decision-making will not be influenced (eg, in older individuals)