Table 1.

Characteristics of the identified mutation carriers

Subject noMutation*FHx PrCaFHx of cancerLOHDxPSA (ng/mL)StageOther verified cancerAge at deathCause of deathSurgical descriptionGleason score (sum)
3BRCA1 IVS 3-1 G>TNone7 FDR, 5 SDR, 5 TDR BrCaNo83N/AIV84CancerPelvic mass9
1BRCA1 2080 del A1 SDR4 SDR BrCa, 1FDR & 3 SDR OvCaNo58N/AIV74CancerLymph node9
26BRCA1 5385_5386 ins CNone4 FDR, 2 SDR BrCaNo787II82Not cancer relatedTURP7
2BRCA1 5622_5687 del 62None5 FDR BrCaNo686.5IIIRadical prostatectomy9
22BRCA2 478 C>TNone1 FDR, 1 SDR, 1 TDR BrCa, 1 SDR ReCa, 1 TDR MelNo434.8IIRadical prostatectomy7
6BRCA2 542 T>G2 TDR4 FDR, 4 SDR BrCaYes64N/AIV65Prostate CancerPostmortem9
9BRCA2 767_768 ins ATNone1 FDR, 1 SDR, 1 TDR BrCa, 1 FDR OvCaNo714.4IIRadical prostatectomy7
17BRCA2 2041_2042 ins A1 SDR2 FDR, 2 SDR BrCa, 1 FDR OvCaYes77N/AII86TURP9
21BRCA2 2041_2042 ins A1 SDR2 FDR, 1 SDR, 1 TDR BrCa, 1 FDR OvCaYes62N/AIIRadical prostatectomy9
16BRCA2 4075_4076 del GTNone2 SDR, 1 TDR BrCaNo529.7IIIRadical prostatectomy7
4BRCA2 5514 T>ANone1 FDR, 2 SDR BrCaYes654.4IIColon68CancerTURP9
23BRCA2 6174 del T1 FDR1 FDR BrCa, 1 FDR UtCaYes638.8-9.5IIRadical prostatectomy9
20BRCA2 7895_7896 ins A1 SDR3 FDR, 2 TDR BrCaYes4167IIProstate biopsy9
7BRCA2 IVS 17-1 G>C1 FDR2 FDR, 3 SDR, 1 TDR BrCa, 2 FDR OvCaYes6715IIProstate biopsy9
11BRCA2 IVS 17-1 G>CNone5 FDR, 1 SDR BrCaYes6365.3IVLymph node9
10BRCA2 8525 del CNone1 SDR, 1 TDR BrCaNo7711.5IIBreast, renal83TURP9
12BRCA2 del exon 19_20None1 FDR, 1 SDR, 1 TDR BrCa, 2 FDR OvCaYes7074IV71Prostate cancerTURP9
8BRCA2 9132 del CNone1 FDR, 1 SDR, 1 TDR BrCa, 1 SDR OvCaYes6410.3IIIBreastRadical prostatectomy9
  • Abbreviations: FHx PrCa, family history of prostate cancer; FDR, first-degree relative; SDR, second-degree relative; TDR, third-degree relative; FHx of cancer, family history of other cancers; BrCa, breast cancer; OvCa, ovarian cancer; ReCa, renal cancer; Mel, melanoma; UtCa, uterine cancer; Dx, age at diagnosis; PSA, prostate-specific antigen.

  • * All mutations classified as pathogenic by kConFab mutation classification subcommittee (guidelines at http://www.kconfab.org).