Table 2 Characteristics of pancreatic adenocarcinoma patients with pathogenic or likely pathogenic germline variants in double-strand DNA repair genes
ID no. | Age/Sex | Pathogenic/likely pathogenic germline alteration(s) | Somatic sequencing and tumor testing data | Other personal history of cancera (age at diagnosis, if known) | PDAC Location | Family history of cancer (relation, age if known) |
|---|---|---|---|---|---|---|
BRCA1/2 pathogenic variant carriers | ||||||
1 | 38/M | BRCA1 c.5444G>A (p.W1815*) and APC c.694C>T (p.R232*) | CN-LOH of BRCA1; somatic c.4611_4612delAG (p.E1538Ifs*5) APC alteration | REC (29) | Tail | LG (pat uncle, 65), CV (pat aunt, 64), BR (pat cousin), CNS (pat cousin) |
2 | 68/F | BRCA1 c.427G>T (p.E143*) | Somatic c.376C>T (p.Q126*) BRCA1 alteration | None | Head/uncinate | BR (mother, 40; sister), OV (sister, 53; sister) |
3 | 75/M | BRCA1 c.5266dupC (p.Q1756Pfs*74) | No somatic BRCA1 alteration identified | CO (62) | Head/uncinate | BR (daughter, 39; mat aunt, 33) |
4 | 29/F | BRCA2 c.5946delT (p.S1982Rfs*22) | No somatic BRCA2 alteration identified | None | Head/uncinate | BR (pat grandmother, 42), SKIN (pat grandmother) PR (mat grandfather), OV (pat great grandmother, 52) |
5 | 55/F | BRCA2 c.4634delT (p.F1546Lfs*22) | Inadequate somatic NGS coverage | None | Tail | CNS (sister, 49); LG (father, 68) |
6 | 62/M | BRCA2 c.1189_1190insTTAG (p.Q397Lfs*25) | Single-copy deletion of BRCA2 | None | Head/uncinate | BR (mother) |
7 | 71/F | BRCA2 c.5946delT (p.S1982Rfs*22) | No somatic BRCA2 alteration identified | None | Tail | None |
Other germline double-strand DNA repair gene pathogenic variant carriers | ||||||
8 | 65/M | ATM c.6843C>G (p.Y2281*) | Single-copy deletion of ATM | BR | Tail | CNS (niece, 40s) |
9 | 66/M | ATM c.3802delG (p.V1268*) | No somatic ATM alteration identified | REC (52) | Head/uncinate | BR (mother), BL (mother), PAN (mat uncle) |
10 | 66/F | ATM c.5931delT (p.F1977Lfs*13) | CN-LOH of ATM | BR (52), SAC (57) | Head/uncinate | BR (mother, 62; pat aunt, 67), SKIN (daughter, 26; father, 65; mat uncle), PAN (mat uncle, 80), ESO (pat uncle, 58) |
11 | 77/F | ATM c.3023delC (p.S1008Lfs*14) | Single-copy deletion of ATM | None | Overlapping sites | None |
12 | 65/M | BRIP1 c.440dupA (p.Y147*) | Single-copy deletion of BRIP1 | None | Tail | BR (mother) |
13 | 67/M | BRIP1 c.2684_2687delCCAT (p.S895*) | No somatic BRIP1 alteration identified | GIST (67) | Tail | PAN (brother, 57), DCIS (sister, 58), SKIN (sister; mat half-cousin), OV (pat grandmother, 75), BR (mat grandmother, 55), LG (mat half-sister, 81; pat cousin, 85), HN (pat cousin, 72), LYM (mat cousin, 62), KID (mat cousin, 55), CO (mat half-cousin, 85), LK (mat half-cousin, 85) |
14 | 80/F | BRIP1 c.2108delAinsTCC (p.K703Ifs*) | No somatic BRIP1 alteration identified | BR (37, 52) | Head/uncinate | BR (sister; daughter), HN (brother) |
15 | 61/F | CHEK2 c.470T>C (p.I157T) | No somatic CHEK2 alteration identified | None | Head/Uncinate | CV (sister), MEL (father) |
16 | 68/M | CHEK2 c.1392delT (p.S465Vfs*15) | No somatic CHEK2 alteration identified | BL (68) | Tail | BR (sister, 45), STO (brother), UNK (father; brother; brother; sister) |
17 | 86/M | CHEK2 c.1283C>T (p.S428F) | No somatic CHEK2 alteration identified | None | Tail | None |
18 | 78/F | NBN c.698_701delAACA (p.K233Sfs*5) | No somatic NBN alteration identified | MEL | Head/uncinate | None |
19 | 74/F | PALB2 c.3113G>A (p.W1038*) | Somatic c.2323C>T (p.Q775*) PALB2 alteration | BR (59) | Head/uncinate | BR (sister, 29; sister, 42; sister, 68; mat aunt, 70) |
20 | 77/F | RAD50 c.1875C>G (p.Y625*) | No somatic RAD50 alteration identified | NHL (73) | Tail | None |
21 | 47/F | RAD51C c.706–2A>G | Single-copy deletion of RAD51C | None | Head/uncinate | OV (mat grandmother) |
