Table 3 Patient characteristics with germline pathogenic variants in 28 disease-causing genes (excluding BRCA1/BRCA2).

From: Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome

Case

Variant

Patient characteristics

HBOC history level

Primary tumor site

Age at primary tumor diagnosis

Breast cancer laterality

Additional cancer

A1013

PALB2:p.M723fs

1

Breast

36

Unilateral (n = 1)

–

A0139

PALB2:p.R1086*

1

Breast

63

Unilateral (n = 1)

–

B0215

PALB2:p.R1086*

2

Breast

37

Unilateral (n = 1)

–

A0214

PALB2:p.E462*

2

Breast

50

Bilateral (n ≥ 2)

–

B0219

PALB2:p.E462*

1

Breast

54

Bilateral (n ≥ 2)

Thyroid

B0277

PALB2:p.L484*

2

Breast

47

Unilateral (n = 1)

–

A0338

PALB2:p.T274fs

2

Breast

44

Bilateral (n ≥ 2)

–

D0241

ATM:p.R805*

2

Ovary

50

Not applicable

–

E0125

ATM:p.P80fs

2

Breast

47

Unilateral (n = 1)

–

A0346

ATM:p.Q374fs

1

Breast

65

Unilateral (n = 1)

–

B0242

ATM:c.4776+2T>A: Splice Site

2

Breast

49

Unilateral (n = 1)

–

C0158

ATM:p.F1837fs

2

Breast

48

Unilateral (n = 1)

–

A0301

BARD1:p.R641*

2

Breast

58

Unilateral (n = 1)

–

A0331

BARD1:p.R150*

2

Breast

26

Unilateral (n = 1)

–

 

ATM:p.A2626fs

2

Breast

26

Unilateral (n = 1)

–

A0298

BARD1:p.Q449*

1

Breast

35

Unilateral (n = 1)

–

B0258

BARD1:p.A173fs

2

Breast

42

Bilateral (n ≥ 2)

–

E0114

BARD1:Exon 5–7 Deletion

1

Breast

42

Bilateral (n ≥ 2)

Endometrial

C0120

RAD51D:p.K111fs

1

Breast

33

Unilateral (n = 1)

–

D0239

RAD51D:p.K111fs

2

Ovary

58

Not applicable

–

A0231

RAD51D:p.V152fs

1

Breast

40

Bilateral (n ≥ 2)

–

B0220

RAD51D:p.Q149*

2

Breast

39

Unilateral (n = 1)

–

D0221

BLM:p.S106fs

1

Breast

40

Unilateral (n = 1)

–

C0256

BLM:p.S106fs

1

Breast

49

Bilateral (n ≥ 2)

–

B0187

BLM:p.G512fs

1

Breast

49

Unilateral (n = 1)

–

B0292

BLM:c.3751 + 2 T > C: Splice Site

2

Breast

49

Unilateral (n = 1)

–

A0281

BRIP1:p.R356*

1

Breast

33

Unilateral (n = 1)

–

B0285

BRIP1:p.A1081fs

1

Breast

47

Bilateral (n ≥ 2)

–

B0170

BRIP1:c.918 + 2 T > C: Splice Site

1

Breast

41

Unilateral (n ≥ 2)

Thyroid

E0237

RAD51C:c.G133T:p.E45*

2

Breast

50

Unilateral (n = 1)

–

C0206

RAD51C:Exon 6–9 Deletion

2

Breast

51

Unilateral (n = 1)

–

B0263

RAD51C:Exon 6–9 Deletion

2

Breast

45

Bilateral (n ≥ 2)

–

B0288

FANCM:p.Q730fs

2

Breast

34

Unilateral (n = 1)

–

D0231

FANCM:p.K841fs

2

Breast

41

Unilateral (n = 1)

–

E0131

RAD50:p.D544fs

2

Breast

49

Unilateral (n = 1)

–

B0198

NF1:p.G255fs

1

Breast

25

Unilateral (n = 1)

–

A0277

CHEK2:p.L486fs

1

Breast

37

Unilateral (n = 1)

–

D0222

RECQL:p.D517_S518delins*

2

Breast

57

Unilateral (n = 1)

–

  1. Results are for 35 of 37 cases with breast cancer (2 patients [ATM p.R805* and RAD51D p.K111fs] with ovarian cancer only were excluded). Unilateral (n = 1), Unilateral (n ≥ 2) and Bilateral (n ≥ 2) indicate one unilateral occurrence, at least two unilateral occurrences, and at least two bilateral occurrences of primary breast cancer, respectively. The tumors were defined as independent primaries (not local recurrent tumors) when cancer cells were absent in the surgical margin of the first tumor, and also when the difference could be seen in the position of occurrence, histology, hormonal status and HER2 expression of the second tumor, according to previous criteria50.
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