The Edmans are encouraging everyone else on Fran Edman's side of the family to find out if they also have MEN2A, because "the darn thing is present in every cell in the body," Brennan said.
Although so far everyone in the Edman clan who is affected has been female - "Mainly because our family is just really heavy on girls," Beth Edman said - MEN2A is not gender-related.
Although cases of MEN2A cluster within families because of the hereditary component, the incidence of MEN2A in the general population is rare, at 2.5 people per 100,000.
those affecting one of the six cysteine radicals (609, 611, 618, 620, 630 and 634 positions) (MEN2A) and those affecting the tyrosine kinase domain (22) (MEN2B)).
It is recommended that testing should be carried out before 1 year of age in children (especially in families with 883/918 codon mutations) and before 5 years in MEN2A families (especially with mutations of codons 611, 618, 620 and 634).
Germline mutations of the RET proto-oncogene are found in 98% of MEN2A, 95% of MEN2B, and in 88% of FMTC patients (13).
After the final analysis of the RET mutations and of the evaluation forms, the final diagnoses were categorized as MEN2A, familial/sporadic MTC, and mutation carriers from MEN2A/FMTC families.
Romano et al., "Activation of RET as a dominant transforming gene by germline mutations of MEN2A
and MEN2B," Science, vol.
, a single missense mutation in any one of six cysteine residues in exon 10 (codons 609, 611, 618, and 620) or 11 (codons 630 and 634) is the primary causative factor in ~98% of cases (1).