Table 10 Recommendations for genetic screening of patients with HSCR

In non-syndromic HSCR, genetic testing ofRETshould be considered

• RET remains the major gene in HSCR

• Molecular testing allows a more accurate estimation of the risk of recurrence

• Genetic testing of RET allows exclusion of the rare possibility of MEN 2A-associated RET mutation that is associated with an increased risk of medullary thyroid cancer

• Parents or patients who wish to have genetic screening should be offered referral for genetic consultation

• Genetic consultation is also recommended for patients with a family history of HSCR, where the incidence of RET mutations is even higher

Level of evidence II-III

Strength of recommendation: Conditional, for

Level of agreement: 100%

In syndromic HSCR, patients should be offered referral for genetic consultation and screening for the specific gene associated with the syndromic phenotype

Level of evidence III

Strength of recommendation: Conditional, for

Level of agreement: 100%