Table 3 List of any cancer (and breast cancer) related genes and unique variants identified by individual patients in the BC-TC group. The strength of known association of each variant with oncogenesis is marked as known (**), potential (*) or no (no marker)

T + 1 (4)

POLE

c.1738C > A

p.His580Asn*

BUB1

c.677C > T

p.Ala226Val*

WRN

c.355 + 4G > C

intronic*

ERCC2

c.545C > T

p.Ala182Val*

T + 2 (4)

SMARCA4

c.918G > C

p.Gln306His*

TSC1

c.3109_3110insGCA

p.Gly1037_Ser1038insSer*

BIVM-ERCC5,ERCC5

c.1954C > G, c.592C > G

p.Pro652Ala, p.Pro198Ala*

NBN

c.511A > G

p.Ile171Val*

T + 3 (5)

ATR

c.2924 T > C

p.Leu975Ser*

KIT

c.2695A > G

p.Met899Val*

BMPR1A

c.563G > A

p.Arg188His*

PALB2

c.522A > G

p.(=)*

HOXB13

c.251G > A

p.Gly84Glu**

T + 4 (3)

BRCA1

c.3925A > C

p.Asn1309His*

CDKN2A

c.-15_8delGGCGGCGGGGAGCAGCATGGAGCC

p.Glu2_Pro3del**

CDK4

c.625C > T

p.Arg209Cys

T + 5 (5)

SMAD4

c.845A > C

p.His282Pro*

XPC

c.155C > T

p.Ser52Leu*

VPS45

c.566A > G

p.Glu189Gly*

FANCM

c.527C > T

p.Thr176Ile

ATM

c.4388 T > G

p.Phe1463Cys

T + 6 (4)

ATR

c.4357A > G

p.Ile1453Val*

ATM

c.8983C > A

p.Leu2995Ile*

BRCA2

c.8755-1G > A

intronic**

BRCA1

c.692C > T

p.Thr231Met*

T + 7 (6)

MUTYH

c.1276C > T

p.Arg426Cys

ATR

c.4912C > T

p.Gln1638Ter**

ATR

c.1546A > G

p.Thr516Ala*

NSD1

c.3805 T > C

p.Ser1269Pro*

BRCA2

c.6968A > G

p.His2323Arg*

CHEK2

c.614C > T

p.Thr205Ile*

T + 8 (4)

ATR

c.3424A > G

p.Ser1142Gly*

PDGFRA

c.842C > T

p.Thr281Met*

TINF2

c.488C > G

p.Pro163Arg*

FLCN

c.592G > A

p.Asp198Asn

T + 9 (1)

TERT

c.1234C > T

p.His412Tyr

T + 10 (6)

TSC2

c.3820 T > C

p.Ser1274Pro*

FANCI

c.2011A > G

p.Ile671Val

FANCI

c.2604A > C

p.Glu868Asp

MFSD3

c.1033C > T

p.Arg345Cys*

BRCA2

c.1483G > C

p.Ala495Pro*

BRCA2

c.4409_4410delTA

p.Ile1470fs**

T + 11 (2)

PTCH1

c.4324C > T

p.Arg1442Trp

CDH1

c.32 T > C

p.Leu11Pro*

T + 12 (5)

PMS1

c.2783 T > C

p.Leu928Pro*

ATM

c.1273G > A

p.Ala425Thr*

ATM

c.1300C > T

p.Pro434Ser*

BRCA2

c.9038C > T

p.Thr3013Ile

STK11

c.413A > G

p.Glu138Gly*

T + 13 (2)

MUTYH

c.536A > G

p.Tyr179Cys**

SLX4

c.2359G > A

p.Glu787Lys

T + 14 (3)

FANCG

c.634G > A

p.Ala212Thr*

CHEK2

c.1556G > T

p.Arg519Leu*

KIF1B

c.2680G > A

p.Val894Met*

T + 15 (2)

RECQL

c.1360C > T

p.Arg454Cys*

CHEK2

c.444 + 1G > A

intronic**

T + 16 (4)

TSC1

c.2418G > A

p.Met806Ile*

POLD1

c.835_837delGAG

p.Glu279del*

PDGFRA

c.1099G > A

p.Val367Met*

DIS3L2

c.1447C > G

p.Arg483Gly*

T + 17 (3)

RECQL4

c.3062G > A

p.Arg1021Gln

SLX4

c.3890G > A

p.Gly1297Glu

SLX4

c.179A > C

p.Gln60Pro

T + 18 (4)

MSH6

c.3226C > T

p.Arg1076Cys**

ATM

c.7290 T > G

p.His2430Gln*

MAX

c.25G > T

p.Val9Leu*

BRCA1

c.181 T > G

p.Cys61Gly**

T + 19 (0)

–

–