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Table 3 Summary of PALB2 c. 2323C>T [p.Q775X] carriers identified in studies of French Canadian cancer families or cases

From: Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

p.Q775X positive cases

Features of p.Q775X positive case [Family number]

Number of index cases screened

Context and feature of cases or families tested

BRCA1and BRCA2status

Reference

0

 

22

HBC and HBOC families; BRCAPRO scores > 0.10

Mutation-negative families

[10]

0

 

16

HBC and HBOC families; BRCAPRO scores < 0.10

Mutation-negative families

[10]

1

BC 54 [P280311 and (F15732)]

50

BC < 50 years of age, or BC between 50–65 yrs of age with at least one other BC or OC in first or second degree relative

Mutation-negative families

[5] ([22])

2

BC 36 [P260071] BC 49 [P310301]

3562

BC <50 years

Common French Canadian mutation negative

[5]

4

BC 36 [P260071] BC 46 [P280311] BC 49 [P310301] BC 49 [P36470]

5642

BC <50 years

Common French Canadian mutation negative

[29]

0

 

99

High risk BC families

Mutation negative

[31]

0

 

21

HBC and HBOC families with at least 2 first/second degree relatives with BC

Mutation negative

[2]

1

BiBC 39–42 [F1469]

48

HBC families (see Table 1)

Mutation-negative or common French Canadian mutation negative

This study

0

 

23

HBOC families (see Table 1)

Mutation-negative or common French Canadian mutation negative

This study

1

BC52;OC58

491

OC (see Table 2)

Not known

This study

  1. 1 Indicates cases identified in the pedigrees identified in independent studies involving 356 BC cases investigated in Foulkes et al. [5] overlap with series of 564 BC cases examined in a subsequent study reported by Ghadirian et al. [29]. 2Pedigrees P28031 and F1573 have related family members and were reported in independent studies [5, 22]. Pedigree P28031 had two mutation-positives cancer cases, one as part of HBC family (BC 54) and the other recruited through BC<50 (BC 46) series. Abbreviations: breast cancer (BC), bilateral breast cancer (BiBC) ovarian cancer (OC) hereditary breast cancer (HBC), hereditary breast and ovarian cancer (HBOC).