Table 3 Clinical information and summary of personal and family histories of mutation carriers
Index patient identifier | Variant | Personal history (age at diagnosis in years) | Immunohistochemistry (if available) | Family history of cancer (age at diagnosis in years) | Conformance to LFS/LFL criteriaa |
|---|---|---|---|---|---|
7 | PALB2:p.(Arg170Ilefs*14) | BC (40) | 1. TNBC | Mat. – M: BC (40) | Eeles |
Pat. – F: leukemia (< 50), GM: esophagus (60) | Chompret 2008 | ||||
Chompret 2009 | |||||
30 | RUNX1:c.97+1G>A | BC (33) | N/A | Mat. – M: BC (56), GM: BC (60) | Chompret 2008 |
32 | ATM exon 62–63 del | BC bilateral (30 + 40) | 1. Triple-positive 2. Triple-positive | Mat. – M: OvCa (51), half-S: BC (41) + lung (46), U: leukemia (45), GM: cancer, GF: cancer | Eeles |
orig. Chompret | |||||
Chompret 2008 | |||||
Chompret 2009 | |||||
Chompret 2015 | |||||
40 | ATM:p.(Cys2931*) | BC (39) | N/A | Mat. – M: OvCa (40), A: leukemia (20) | Eeles |
CHEK2 exon 9–10 del | Chompret 2008 | ||||
Chompret 2009 | |||||
58 | CDKN2A:p.(Arg98*) | BC (32) | HER2+ | Mat. – GM: ureter (64) | Chompret 2008 |
RECQL4:c.1390+1G>C | Pat. – GF: hypopharynx (62) | ||||
59 | WRN exon 15–16 del | BC (32) | N/A | Mat. – half-S: melanoma (46), GF: lung (64), GM: CRC (50), GGM: CRC (59), U: kidney (60), this U’s sons: melanoma (45), basalioma (36) | Eeles |
orig. Chompret | |||||
Chompret 2008 | |||||
Pat. – U: brain (25), 10 Us/As: all died of cancer at a young age | Chompret 2009 | ||||
Chompret 2015 | |||||
Birch | |||||
60 | ATM:p.(Glu1978*) | BC (40) | HR+ | Mat. – M: BC (51), GM: BC (73) | Eeles |
Pat. – F: glioblastoma (42) | Chompret 2008 | ||||
Chompret 2009 | |||||
Chompret 2015 | |||||
65 | FANCI:p.(Arg1285*) | BC (30) | HER2+ | Mat. – U: CRC (37), GF: CRC (70), GGM: cancer | Chompret 2008 |
PMS2 exon 3–8 del | Pat. – GF: esophagus (74) | Chompret 2015 | |||
76 | PALB2:p.(Gln60Argfs*7) | BC bilateral (33 + 39) | 1. HR+ lobular 2. HR+ (HER2+ in metastases) | B: lung (43) | Eeles |
Mat. – M: pancreas (58), A: melanoma (67) | orig. Chompret | ||||
Chompret 2008 | |||||
Chompret 2009 | |||||
79 | RECQL4:p.(Ala919Thr) | BC (27) | HR+ | Mat. – M: NHL (42), GF: bladder (54) | Chompret 2008 |
Pat. – GM: BC (53), GU: lymphoma (52), GA: BC (57), this GA’s daughter: BC (47) | Chompret 2015 |