Table 3 Clinical features of 17 patients with dual primary breast and lung cancer with pathogenic or likely pathogenic variants
From: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
Patient IDa | Gene | Variant | Consequence | Family History (Age at Dx) | Breast cancer | Lung cancer | Temporal occurrence of Br and Lung Ca Dx | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at Dx (years) | Histo type (Laterality) | ER/PR/Her2 status | Age at Dx (years) | Histo type | Smoking history | EGFR status | ||||||
H3168 | FANCA | rs2039260856 (T) | Stop gain | Sis Lung Ca (> 50); Sis Br Ca (58); Fa HNSCC (62) | 45 | ILC (L) | Unk | 66 | ADC | None | E746_A75del | Br before Lung Ca |
| Â | PALB2 | rs878855123 (A) | Stop gain | Â | Â | Â | Â | Â | Â | Â | Â | Â |
H1641 | BRCA2 | rs1555283001 (G) | Stop gain | Mo Pancreatic Ca (70 +) | 56 | IDC (L) | ER + /PR-/Her2 +  | 64 | ADC | None | E746_A75del | Br before Lung Ca |
H1362 | BRIP1 | rs775537066 (CA) | Stop gain | No known | 60 | IDC (L) | ER-/PR-/Her2 +  | 63 | LELC | None | Unk | Br before Lung Ca |
H1409 | RAD51D | rs753862052 (TTA) | Frameshift ins | Mo Col Ca (Unk); Sis Ov Ca (Unk) | 68 | IDC (R) | ER + /PR-/Her2- | 68 | ADC | None | WT | Synchronous |
H2590 | TP53 | rs587782144 (T) | Nonsyn. SNV | No known | 49 | NOS (R), IDC (L) | Unk (R), ER + /PR-/Her2- (L) | 74 | ADC | None | E746_A75del | Br before Lung Ca |
H3587 | EXT2 | chr11:g.44109284G > C | Splice site | Bro Pros Ca (Unk) | 53 | IDC (R) | ER + /PR + /Her2- | 60 | LCNEC | None | Unk | Br before Lung Ca |
H1026 | BRIP1 | rs1426528935 (T) | Frameshift del | Fa Lung Ca (Unk); Mo Lung Ca (Unk); Sis Br Ca (Unk) | 46 | NOS (L) | Unk | 55 | ADC | None | E746_A75del | Br before Lung Ca |
H3539 | FANCA | rs755104393 (G) | Splice site | Niece Lung Ca (40 +) | 63 | IDC (R) | ER + /PR + /Her2- | 75 | ADC | None | N771_P772insPH | Br before Lung Ca |
H4324 | WWOX | rs758588684 (C) | Start loss | No known | 47 | IDC (R) | Unk | 63 | ADC | None | WT | Br before Lung Ca |
H2552 | GATA2 | rs1166272013 (G) | Splice site | No known | 59 | DCIS (R) | ER + /PR-/Her Unk | 59 | ADC | None | WT | Synchronous |
H3400 | ERCC6/PGBD3 | rs181055741 (A) | Stop gain | Bro Pros Ca (63); Fa HNSCC (70) | 62 | MADC (L) | ER + /PR + /Her2 +  | 62 | ADC | None | E746_A75del | Synchronous |
H4270 | TP53 | rs1019340046 (G) | Nonsyn. SNV | Fa Gastric Ca (40) | 34 | DCIS (R), IDC (L) | Unk (R), ER + /PR + /Her2 Unk (L) | 52 | SCLC | None | WT | Br before Lung Ca |
H1758 | GPC3 | rs1158430569 (T) | Nonsyn. SNV | No known | 68 | IDC (R) | ER + /PR + /Her2 Equiv | 69 | ADC | None | L858R | Br before Lung Ca |
H4326 | MSH2 | rs768572053 (G) | Nonsyn. SNV | Sis Lung Ca (60); Sis Lung Ca (69) | 64 | DCIS (R) | ER + /PR + /Her2 Unk | 59 | ADC | Former | WT | Lung before Br Ca |
|  | PTEN | chr10:g.87864072TCTA > T | Non-frameshift del |  |  |  |  |  |  |  |  |  |
H3053 | WRN | rs569405870 (A) | Nonsyn. SNV | No known | 65 | IDC (R) | ER + /PR + /Her2- | 65 | ADC | None | WT | Synchronous |
H2235 | FANCI | rs747603151 (T) | Non-frameshift del | Sis Ute Ca (40 +); Fa Unk (60–70) | 67 | IDC (R), ILC (R) | ER + /PR + /Her2- | 74 | ADC | None | WT | Br before Lung Ca |
H2420 | KMT2A | chr11:g.118436698C > CGCG | Non-frameshift ins | No known | 63 | IDC (L) | ER + /PR + /Her2- | 72 | ADC | None | Exon19del | Br before Lung Ca |