Table 3.
Melanoma cases with ATM LOF variants in the study cohort.
| ID | Selection criteria | Nucleotide base change | Amino acid change | Variant effect | Cases | Cosegregation | Total number of melanomas | Age at diagnosis of first melanoma | Personal history of other cancers | Family history of other cancers |
|---|---|---|---|---|---|---|---|---|---|---|
| NCI_1 | S | c.717_720del | p.Phe239Leufs*15 | FS | 1 | n.d. | 1 | n.a | n.a | n.a |
| NCI_2 | S | c.6228delT | p.Leu2077Phefs*5 | FS | 1 | n.d. | 1 | n.a | n.a | n.a |
| NCI_3 | S | c.7928-2A>T | Splice | 1 | n.d. | 1 | n.a | n.a | n.a | |
| NCI_4 | S | c.7629 + 2T>C | Splice | 1 | n.d. | 1 | n.a | n.a | n.a | |
| NCI_5 | S | c.902-1G>T | Splice | 1 | n.d. | 1 | n.a | n.a | n.a | |
| UNIGE_4 | F | c.3576G>A | p.Ser1135_Lys1195del58 | Splice | 3 | n.d. | 2 | 41 | NO | NO |
| UNIGE_22 | F | c.3576G>A | p.Ser1135_Lys1195del58 | Splice | 2 | n.d. | 1 | 49 | NO | NO |
| UNIGE_47 | F | c.3576G>A | p.Ser1135_Lys1195del58 | Splice | 2 | Yes (2/2) | 2 | 40 | BCC | NO |
| UNIGE_24 | F | c.4451delT | p.Met1484Argfs*15 | FS | 3 | n.d. | 3 | 47 | HL, PC | CRC, PC |
| UNIGE_37 | F | c.8319_8323dupTGTCC | p.Pro2775Leufs*33 | FS | 2 | n.d. | 3 | 48 | BCC, BC | PrC, BCC |
| UNIGE_39 | MPM | c.5979_5983delTAAAG | p.Ser1993Argfs*23 | FS | 1 | n.d. | 3 (1CMM, 2UM) | 51 | NO | NO |
| UNIGE_40 | S | c.3275C>A | p.Ser1092* | NS | 1 | n.d. | 1 | 47 | NO | n.a |
| QIMR_7 | F | c.1236dup | p.Leu413Alafs*17 | FS | 3 | Yes (3/3) | n.a | 59 | NO | NO |
| QIMR_1 | F | c.7886_7890del | p.Ile2629Serfs*25 | FS | 8 | No (1/6) | 1 | 25 | NO | CRC |
| QIMR_15 | F | c.7829_7830del | p.Arg2610Lysfs*2 | FS | 3 | Partial (2/3) | 12 | 40 | EC | CRC, MES |
| QIMR_16 | F | c.1236-3_1236-2delinsATTT | FS | 7 | No (1/3) | n.a | n.a | n.a | n.a | |
| OUH_8 | MPM | c.3244_3245insTG | p.His1082Leufs*28 | FS | 1 | n.d. | 3 | 72 | NO | n.a |
| OUH_13 | MPM | c.3284 + 1G>A | Splice | 1 | n.d. | 3 | 28 | NO | n.a | |
| Sanger_7 | F | c.1561_1562delAG | p.Glu522Ilefs*43 | FS | 5 | Partial (3/4) | 2 | 22 | n.a | BC |
| Bichat_3 | F | c.8850 + 2dup | Splice | 3 | n.d. | 3 | 51 | CLL | n.a | |
Cosegregation = N cases with a LOF variant/N sequenced cases.
BC breast cancer, BCC basal cell cancer, CLL chronic lymphocytic leukemia, CMM cutaneous malignant melanoma, CRC colorectal cancer, EC endometrial cancer, F familial melanoma, FS frameshift variant, HL Hodgkin lymphoma, LOF loss of function, MES mesothelioma, MPM multiple primary melanoma, n.a. not available, n.d. not determined, NS nonsense variant, PC pancreatic cancer, PrC prostate cancer, S sporadic, Splice splice acceptor or splice donor variant, UM uveal melanoma.