Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

Table 3 Prevalence of test results in absolute numbers and percent within each cohort

Test resultcohorts Cross-tabulations*^a
			Cohorts			Total
			1	2	3	Total
Test result	No variant	n	494	44	189	727
		% within cohorts	78.2%	75.9%	66.8%
	Pathogenic	n	105	6	16	127
		% within cohorts	16.6%	10.3%	5.7%
	VUS	n	38	8	90	136
		% within cohorts	6.0%	13.8%	31.8%
Total		n	632	58	283	973
Percentages and totals are based on respondents and values may exceed 100% as patients may have multiple mutations (multiple responses possible)
^aTumor syndrome = HBOC

Test resultcohorts Cross-tabulations*^a
			Cohorts	Total
			4	Total
Test result	No variant	Count	58	58
		% within cohorts	69.0%
	Pathogenic	Count	22	22
		% within cohorts	26.2%
	VUS	Count	5	5
		% within cohorts	6.0%
Total		Count	84	84

ISSN: 1755-8794