Table 1.
eoRCC patient characteristics, genomic findings, and family history
| Patient # | Sex | RCC Dx age | Genetic variants (ACMG classification) | Other cancers | Relatives/cancer (age) | |||
|---|---|---|---|---|---|---|---|---|
| 1st degree | 2nd degree | 3rd degree | other | |||||
| Pt 1 | M | 48 |
POLD1 (LP) POLH (LP) MTOR (VUS) PARP1 (VUS) FH (VUS) MCM2 (VUS) |
sarcoma (58), thyroid (37), Hodgkins lymphoma (21) | MOTHER/SKIN + PANCREAS (85) FATHER/UNKNOWN |
MATERNAL GRANDFATHER COLON/RECTUM (60) MATERNAL AUNT/COLON/RECTUM (49) MATERNAL AUNT/THYROID (65) + LUNG (66) MATERNAL UNCLE/COLON/RECTUM + PROSTATE + LUNG (75) PATERNAL AUNT/BREAST(82) PATERNAL AUNT/BREAST (79) PATERNAL UNCLE/BONE + SKIN (6) |
MATERNAL COUSENE/SKIN (56) PATERNAL COUSENE/STOMACH (56) |
|
| Pt 2 | F | 44 |
POLE (VUS) PDGFRA (VUS) BRCA2 (VUS) |
SISTER/COLON (41) |
MATERNAL AUNT/BREAST (52) MATERNAL UNCLE/COLON (60) |
MATERNAL COUSENE/RCC (38) MATERNAL COUSINE/BREAST (41) |
||
| Pt 3 | F | 52 | MITF (P) | breast (44) |
FATHER/RCC (57) MOTHER/LUNG (75) |
PATERNAL GRANDMOTHER/BREAST (60) MATERNAL GRANDFATHER/STOMACH (62) |
BLADDER (55) BLADDER (52) PANCREAS (65) | |
| Pt 4 | F | 42 |
RRM2B (VUS) BCL2L1 (VUS) |
breast (30, 40) | MOTHER/UTERUS (23) |
MATERNAL GRANDMOTHER/RCC (88) PATERNAL UNCLE/LEUKEMIA (5) |
||
| Pt 5 | F | 46 |
OGG1 (VUS) NEIL3 (VUS) UBR5 (VUS) |
breast (42, 49) | FATHER/SKIN (75) | PATERNAL COUSENE/PROSTATE (61) | ||
| Pt 6 | F | 36 |
RIF1 (VUS) KDR (VUS) XRCC1 (VUS) |
neuroblastoma (2) | MATERNAL GRANDFATHER/MELANOMA (61) MATERNAL UNCLE/LUNG (66) | |||
| Pt 7 | F | 37 | MK167 (VUS) | 2 primary RCC (37) | SISTER/COLON | |||
| Pt 8 | F | 49 |
RET (LP) BCL2L1 (VUS) |
SISTER/RCC | ||||
| Pt 9 | F | 53 |
AUNT/RCC GRANDFATHER/BLADDER/TESTICLE/LIVER |
|||||
| Pt 10 | F | 56 | PBRM1 (VUS) |
SISTER/RCC MOTHER/BREAST FATHER/PROSTATE |
OTHER/BREAST OTHER/COLON | |||
| Pt 11 | F | 58 |
SISTER/BREAST FATHER/STOMACH |
PATERNAL AUNT/BREAST/BLADDER/RCC | ||||
| Pt 12 | M | 35 | SCARB1 (VUS) | PATERNAL GRANDFATHER/RCC | ||||
| Pt 13 | M | 49 | TSC2 (P) |
MOTHER/LUNG FATHER/PANCREAS SISTER/SKIN |
||||
| Pt 14 | M | 45 |
ATM (2, VUS) FLT3 (VUS) SMARCA4 (VUS) |
MOTHER/RCC/BLADDER FATHER/LUNG |
||||
| Pt 15 | M | 46 | EGF (VUS) | FATHER/RCC/BLADDER/LIVER/PROSTATE | ||||
| Pt 16 | M | 48 |
POLK (VUS) EXO1 (VUS) MUTYH (VUS) |
FATHER/BLADDER | UNKNOWN/RCC | |||
| Pt 17 | M | 48 | SISTER/RCC | |||||
| Pt 18 | M | 52 |
FATHER/RCC BROTHER/PROSTATE |
|||||
| Pt 19 | M | 54 |
SDHB (VUS) NDUFA13 (VUS) MMP9 (LP) |
MOTHER/RCC/BLADDER/COL.POLYPS | MOTHER/BLADDER | |||
| Pt 20 | M | 57 |
MMP9 (VUS) MSH3 (VUS) LTK (LP) POLR2A (VUS) |
MOTHER/RCC (76) BROTHER/RCC + LUNG (61) BROTHER/NON-HODGKINS LYMPH (45) |
||||
| Pt 21 | M | 57 |
SISTER/BREAST MOTHER/BREAST BROTHER/RCC |
|||||
| Pt 22 | M | 59 |
FLT4 (VUS) SMARCE1 (VUS) |
MOTHER/RCC | MATERNAL GRANDMOTHER/LUNG | |||
ACMG The American College of Medical Genetics and Genomics, F female, M male, Dx age age of diagnosis, LP likely pathogenic, P pathogenic, Pt patient, RCC renal cell carcinoma, VUS variant of uncertain significance