Table 5 Analysis of the cell division cycle 73 gene and corresponding tumoral parafibromin status

Main cohort (clinical parafibromin screening)^a
Case	Gender	Age at diagnosis	Diagnosis	Parafibromin immunohistochemistry	Germline cell division cycle 73 genotype^b	Comment
1	Male	19	Atypical adenoma	Completely negative	c.131+1G > C (splice site)	Brother of Case 2
2	Female	37	Carcinoma	Partial loss	c.131+1G > C (splice site)	Sister of Case 1
3	Female	71	Carcinoma	Completely negative	Wild-type

Retrospective parafibromin immunohistochemistry on patients with established cell division cycle 73 gene mutations^c
Case	Gender	Age at diagnosis	Diagnosis	Parafibromin (stained in retrospect)	Germline cell division cycle 73 genotype	Comment
4	Male	52	Carcinoma	Completely negative	c.700C > T, p.(Arg234 STOP)
5	Female	24	Adenoma	Completely negative	c.1394C > G, p.(Ser465 STOP)	Mother of Case 6
6	Female	23	Adenoma	Completely negative	c.1394C > G, p.(Ser465 STOP)	Daugther of Case 5
7	Male	17	Carcinoma	Completely negative	c127dup, p.(Trp43Leu fs STOP 23)
8	Male	51	Adenoma	Completely negative	c.131+1G > C (splice site)	Father to Case 1–2

Cell division cycle 73 gene sequencing of parathyroid carcinomas from the main cohort with aberrant parafibromin immunohistochemistry
Case	Gender	Age at diagnosis	Diagnosis	Parafibromin immunohistochemistry	Cell division cycle 73 genotype^d	Unequivocal histological signs
1	Male	56	Carcinoma	Partial loss	Wild-type	Extraparathyroidal extension
2	Male	65	Carcinoma	Partial loss	Wild-type	Extraparathyroidal extension and vascular invasion
3	Male	69	Carcinoma	Partial loss	Wild-type	Extraparathyroidal extension

^aPatients included in the main cohort with parafibromin and cell division cycle 73 gene data available
^bAll cell division cycle 73 gene mutations are according to the NCBI Reference Sequence NM_024529
^cPatients with parathyroid tumors and germline cell division cycle 73 gene mutations diagnosed outside the study period
Cases were sequenced and diagnosed well ahead of the introduction of clincial routine parafibromin screening
^dDetermined by direct cell division cycle 73 gene Sanger sequencing and multiplex ligation-dependent probe amplification of genomic DNA from tumor tissue

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