Table 2.

Cancer histories of participants (N = 14)

ID	Prior Testinga	Prior Resultb,c	Cancer Historyd	Family Historyd,e	NCGENES Variant Interpretationb,c	NCGENES Case-Level Interpretationf
1	BRCA1/2, TP53	Negative	Breast and fallopian tube cancer in 50s; Dermatofibrosarcoma protuberans in 30s	Breast (3) Brain (1) Lung (1)	Negative	Negative
2	BRCA1/2	Negative	Breast cancer early onset	Breast (3), one early onset	PALB2 variant pathogenic	Positive definitive
3	Multi-gene cancer panel	ATM variant pathogenic	Breast cancer in late 40s, 2 lung cancers in 60s	Breast (2), one bilateral Melanoma (2) Lung (1) NOTE: One relative had both breast cancer and melanoma	ATM variant pathogenic, previously identified	Uncertain contribution
4	BRCA1/2*	Negative	3 primary breast cancers, first early onset	Breast (3), one bilateral Ovarian (1) Prostate (1) Colorectal (1) NOTE: One relative had both breast and ovarian cancers, another had both prostate and colorectal cancers	BRIP1 variant pathogenic	Uncertain contribution
5	BRCA1/2	Negative	Breast cancer early onset, melanoma, cervical cancer (age unknown)	Breast (2), one in a male	Negative	Negative
6	BRCA1/2*	Negative	Breast cancer early onset	Breast (3) Colorectal (1)	BARD1 variant likely pathogenic	Uncertain contribution
7	None	n/a	Breast cancer in late 40s	Breast (4), one early onset Colorectal (2)	PALB2 VUS and an incidental finding	Uncertain variant
8	BRCA1/2	Negative	Breast cancer early onset	Breast (2)	Negative	Negative
9	BRCA1/2	Negative	Breast cancer early onset	Breast (3) Uterine (1)	Negative	Negative
10	BRCA1/2	Negative	Ovarian cancer early onset	Ovarian (2)	Negative	Negative
11	BRCA1/2	Negative	2 breast cancers in 50s and 60s, contralateral breast cancer in 50s	Breast (2) Ovarian (1) Colorectal (1) Ashkenazi Jewish ancestry	Negative	Negative
12	BRCA1/2; MLH1, PMS2**	BRCA1 variant VUS	2 bilateral triple negative breast cancers, 1 early onset; colon cancer MSI-H in late 40s, Immunohistochemistry missing for MLH1 and PMS2, no hypermethylation	Breast (2), one early onset	BRCA1 variant likely pathogenic, (reclassification of previously identified variant)	Positive probable
13	BRCA1/2*	Negative	Invasive lobular breast cancer in 50s	Breast (5), one bilateral and two early onset Colorectal (1)	BARD1 variant likely pathogenic	Uncertain contribution
14	BRCA1/2	BRCA1 variant VUS	2 [bilateral] breast cancers, 1 early onset	Breast (2), one early onset Prostate (1)	BRCA1 variant VUS	Uncertain variant

^aAll prior testing included sequencing and deletion/duplication analysis unless otherwise noted

^bNegative is defined as no clinically significant mutations identified

^cVariant of uncertain significance (VUS)

^dEarly onset for breast cancer is under 45 years old. Early onset for ovarian cancer is under 50.

^eNumber of first and second degree relatives with cancer

^fCase-level classifications with respect to uncertainty were made according to Strande et al. (2018)

^*Protein truncation testing of BRCA1/2 only

^**Sequencing and deletion/duplication analysis of BRCA1/2 and MLHI, and sequencing only of PMS2