Table 4.
Description of germline pathogenic variants.
| Patient | Germline Pathogenic Variant | Age at Diagnosis | Bilateral Cancer | Triple Negative | Cancer Family History up to Third Degree (Age) | Second Malignancies of Proband (Age) |
|---|---|---|---|---|---|---|
| 01 | ATM c.1339C>T (p.Arg447Ter) | 39 | No | No | Breast (40) and Colon (58). | |
| 02 | ATM c.2999del (p.Asn1000Thrfs*2) | 35 | No | No | Breast (65) and Breast (72). | |
| 03 | ATM c.3802delG (p.Val1268*) | 41 | No | No | Breast (54) and Breast (56). | |
| 04 | ATM c.3802delG (p.Val1268*) | 33 | No | No | None. | |
| 05 | ATM c.4741dupA (p.Ile1581Asnfs*5) | 48, 67 | Yes | Yes | Breast (64), Breast (80), Leukemia (80), and Kidney (81). | |
| 06 | ATM c.4906C>T (p.Gln1636Ter) | 42, 46 | Yes | No | Breast (40), Gastric, Colon (73), and Kidney. | |
| 07 | ATM c.67C>T (p.Arg23*) | 45 | No | No | Breast (54), Breast, Colon (80), Kidney (40), and Kidney (71). | |
| 08 | ATM Partial Deletion (Exon 27-29) | 66 | No | No | Breast (30), Pancreas, Prostate (85), Sarcoma, and Thyroid (15). | |
| 09 | BRCA1 c.1071dup (p.Leu358Thrfs*8) | 34 | No | Yes | Breast (34), Bilateral Breast (35, 35), and Breast (36). | |
| 10 | BRCA1 c.1687C>T (p.Gln563*) | 35, 35 | Yes | Yes | Ovary (58). | |
| 11 | BRCA1 c.188T>A (p.Leu63Ter) | 46 | No | Yes | Pancreas (64) and Gastric (72). | |
| 12 | BRCA1 c.2176_2177delCT (p.Leu726Serfs) | 39 | No | No | Breast (42), Breast (69), Prostate (68), and Prostate (75). | |
| 13 | BRCA1 c.3770_3771delAG (p.Glu1257Glyfs*9) | 41, 43 | Yes | Yes | Breast (50), Breast (80), and Melanoma (43). | |
| 14 | BRCA1 c.4165_4166delAG (p.Ser1389*) | 32 | No | Yes | Breast (55). | |
| 15 | BRCA1 c.441+2T>A (Splice donor) | 42 | No | Yes | Breast (38), Breast (38), Breast (60), and Ovary (48). | |
| 16 | BRCA1 c.5074+2T>C (Splice donor). | 29, 39 | Yes | Yes | Breast (45), Breast (48), and Breast (55). | |
| 17 | BRCA1 c.5266dupC (p.Gln1756Profs) | 28 | No | – | Breast (36), Breast, Breast, and Pancreas (70). | Colon (70). |
| 18 | BRCA1 c.5266dupC (p.Gln1756Profs) | 62 | No | No | Breast (28), Breast, Prostate, and Prostate. | Lymphoma (62). |
| 19 | BRCA1 c.5266dupC (p.Gln1756Profs) | 48, 55 | Yes | Yes | Breast (40), Bilateral Breast (43, 54), Breast (64), Ovary (80), Pancreas (42), and Prostate (67). | Ovary (52). |
| 20 | BRCA1 c.5266dupC (p.Gln1756Profs) | 32 | No | Yes | Breast (70). | |
| 21 | BRCA1 c.5554_5555delAC (p.Thr1852Leufs*27) | 32 | No | Yes | Breast (40) and Colon (55). | |
| 22 | BRCA1 c.798_799del (p.Ser267Lysfs*19) | 32 | No | Yes | Bilateral Breast (38, 40), Breast (45), Ovary (40), and Ovary (50). | |
| 23 | BRCA2 c.1138del (p.Ser380Valfs*19) | 28 | No | No | Breast (47) and Breast (70). | |
| 24 | BRCA2 c.6034del (p.Ser2012Profs*28) | 32 | No | No | Breast (78), Colon (70), and Thyroid (60). | |
| 25 | BRCA2 c.7007G>A (p.Arg2336His) | 41 | No | No | Breast (60) and Breast (65). | |
| 26 | BRCA2 c.8009C>T (p.Ser2670Leu) | 57 | No | No | Gastric (59). | |
| 27 | BRCA2 c.8878C>T (p.Gln2960Ter) | 29 | No | No | Ovary (35), Pancreas (73), Melanoma (58), and Melanoma (63). | |
| 28 | BRCA2 c.9097dupA (p.Thr3033Asnfs*11) | 53 | No | No | Breast (20), Breast (44), Breast (58), and Breast (70). | |
| 29 | CDH1 c.1763_1764del p.Val588Glufs*2 | 47 | No | – | Breast (48) and Colon (70). | Melanoma (41). |
| 30 | CDH1 c.471dup (p.Ile158Tyrfs*10) | 47 | No | No | Bilateral Breast (32, 47), Colon (63), Colon (64), and Colon (69). | |
| 31 | CHEK2 c.1100del C (p.T367Mfs*15) | 48 | No | No | Prostate (43). | |
| 32 | CHEK2 c.1459C>T (p.Gln487*) | 41 | No | No | Prostate (70), Thyroid (42), Thyroid (55), and Thyroid (60). | |
| 33 | CHEK2 c.846+1G>C (Splice donor) | 42 | No | No | Breast, Breast, Breast, Pancreas, and Kidney (75). | Parotid (49) and Kidney (62). |
| 34 | CHEK2 c.846+4_846+7del (Intronic) | 40 | No | No | Leukemia (35). | |
| 35 | MITF c.952G>A (p.Glu318Lys) | 57 | No | No | Prostate (49), Prostate (70), and Colon (78). | |
| 36 | Monoallelic MUTYH c.1147delC (p.Ala385Profs) | 41 | No | No | Sarcoma (70). | |
| 37 | Monoallelic MUTYH c.1187G>A (p.Gly396Asp) | 35 | No | No | Breast (60), Ovary (64), Prostate (72), Prostate (75), Melanoma (56), Central Nervous System (70), and Colon (48). | |
| 38 | Monoallelic MUTYH c.1187G>A (p.Gly396Asp) | 53 | No | No | Breast, Breast, Ovary (50), and Melanoma. | |
| 39 | Monoallelic MUTYH c.1187G>A (p.Gly396Asp) | 53 | No | No | Pancreas (73), Prostate (65), and Prostate (80). | Thyroid (32). |
| 40 | Monoallelic MUTYH c.1187G>A (p.Gly396Asp) | 40 | No | No | Breast and Pancreas. | |
| 41 | Monoallelic MUTYH c.1187G>A (p.Gly396Asp) | 47 | No | Yes | Breast (73) and Endometrium (67). | |
| 42 | Monoallelic MUTYH c.1437_1439delGGA (p.Glu480del) | 34 | No | No | Breast (42). | |
| 43 | Monoallelic MUTYH c.536A>G (p.Tyr179Cys) | 40 | No | No | Breast (47), Ovary, and Colon. | |
| 44 | Monoallelic MUTYH Deletion (Exons 4-16) | 58 | No | No | Breast (50), Breast (70), Ovary (89), and Sarcoma (06). | |
| 45 | PALB2 c.1240C>T (p.Arg414*) | 54, 67 | Yes | Yes | Breast and Breast. | Thyroid (54). |
| 46 | PALB2 c.1671_1674delTATT (p.Ile558Lysfs) | 50 | No | – | Breast and Breast. | |
| 47 | PALB2 c.1671_1674delTATT (p.Ile558Lysfs) | 38 | No | No | Breast (67) and Colon (65). | |
| 48 | PALB2 c.355delC (p.Gln119Lysfs) | 38 | No | No | Breast (50). | Thyroid (36). |
| 49 | PALB2 Deletion (Exons 7-10) | 41 | No | No | Breast (41), Breast (60), and Prostate (75). | |
| 50 | PMS2 c.903G>T (p.Lys301Asn) | 60 | No | No | Colon (63) and Endometrium (69). | |
| 51 | RAD51C c.709C>T (p.Arg237*) | 51, 51 | Yes | Yes | Prostate (87). | |
| 52 | RAD51C Deletion (Exons 6-9) | 43 | No | Yes | Melanoma (65) and Central Nervous System (70). | Gastrointestinal Stromal Tumor (45). |
| 53 | RAD51D c.694C>T (p.Arg232*) | 34 | No | No | Breast (45), Pancreas (69), and Colon (60). | |
| 54 | TERT c.336dupC (p.Glu113Argfs) | 38 | No | Yes | ||
| 06 | TP53 c.1010G>A (p.Arg337His) | 42, 46 | Yes | No | Breast (40), Gastric, Colon (73), and Kidney. | |
| 37 | TP53 c.1010G>A (p.Arg337His) | 35 | No | No | Breast (60), Ovary (64), Prostate (72), Prostate (75), Melanoma (56), Central Nervous System (70), and Colon (48). | |
| 55 | TP53 c.1010G>A (p.Arg337His) | 38 | No | No | Breast (41), Breast (55), Prostate (75), Central Nervous System (15), and Colon (55). | Sarcoma (29). |
| 56 | TP53 c.1010G>A (p.Arg337His) | 47 | No | – | Breast (50), Breast (60), Central Nervous System (01), and Central Nervous System (56). | Lung (56). |
| 57 | TP53 c.1010G>A (p.Arg337His) | 44 | No | No | Breast (66) and Sarcoma (12). |