Table 2

Germline mutations in BRCA1 and BRCA2

No.FamilyDesignationExonNucleotideCodonAA changePredicted effect
BRCA1
  1OvaM1Rb21211Met to ArgDisrupt start codon
  2Ov241delAb324141FrameshiftPT
  3Br/OvC61G530061Cys to GlyLose zinc-binding motif
  4OvL63Xc530763Leu to stopPT
  5Br/OvL63Xc530763Leu to stopPT
  6OvL63Xc530763Leu to stopPT
  7OvL63Xc530763Leu to stopPT
  8OvL63Xc530763Leu to stopPT
  9Br/OvL63Xc530763Leu to stopPT
 10Br/OvL63Xc530763Leu to stopPT
 11Br/OvN169Xc8624169Gln to stopPT
 12OvE352Xb111173352Glu to stopPT
 13Ov2080delA112080654FrameshiftPT
 14Ov2080delA112080654FrameshiftPT
 15Br/Ov2194–2195delATb112194–2195692FrameshiftPT
 16Br/Ov2507–2508delAGb112507–2508796FrameshiftPT
 17Br/Ov2507–2508delAGb112507–2508796FrameshiftPT
 18Br/Ov2730–2731delCCb112730–2731871FrameshiftPT
 19OvQ934Xc112919934Gln to stopPT
 20OvQ934Xc112919934Gln to stopPT
 21Br/OvQ934Xc112919934Gln to stopPT
 22OvQ934Xc112919934Gln to stopPT
 23Br/OvQ934Xc112919934Gln to stopPT
 24OvQ934Xc112919934Gln to stopPT
 25OvQ934Xc112919934Gln to stopPT
 26Br/OvQ934Xc112919934Gln to stopPT
 27Br/Ov3226–3231delTTAAAGb113226–32311036FrameshiftPT
 28Ov3376–3377insTb113376–33771086FrameshiftPT
 29Br/Ov3493–3494delCTc113493–34941125FrameshiftPT
 30Ov3516–3517delTTb113516–35171133FrameshiftPT
 31Ov3532delGb1135321138FrameshiftPT
 32Br/OvE1214X1137591214Glu to stopPT
 34Br/OvL1216Xc1137661216Leu to stopPT
 33Ov3834–3836del3,insCb113834–38361239FrameshiftPT
 35Br/Ov4046–4049delTACAb114046–40491309FrameshiftPT
 36Br/Ov4237–4238delAGb124237–42381373FrameshiftPT
 37Ov4237–4238delAGb124237–42381373FrameshiftPT
 38OvIVS14-2A>Gb15IVSSplice aberration
 39Ov5326delTb2053261736FrameshiftPT
 40OvD1778Yb2154511778Asp to TyrSplice aberration
BRCA2
  1Ov4567delGb1145671447FrameshiftPT
  2Ov5804–5807delTTAA115804–58071859FrameshiftPT
  3Br/Ov7384–7385insTb147384–73852386FrameshiftPT
  4Br/Ov8941–8944delTATGb218941–89442905FrameshiftPT
  5Br/OvQ3026Xc2393043026Gln to stopPT
  • a Ov, ovarian; Br, breast; PT, protein truncation; IVS, a noncoding intervening sequence.

  • b Novel and unique mutation in Japan.

  • c Unique mutation in Japan.