Table 1.

LOH rates at the BRCA1, BRCA2, and APC loci

SubjectStatusDuctCytologyBRCA1
BRCA2
APC
D17S855D17S1322D17S1325D13S260D13S171D13S1493D13S267D5S346
1BRCA1Right aBenignLOH (2)No LOHLOH (2)No LOHNINo LOHNo LOHNo LOH
Right bBenignNo LOHNo LOHNo LOHLOH (2)NINo LOHNo LOHNo LOH
2BRCA1Right a1BenignLOH (1)LOH (2)FLOH (2)LOH (1)LOH (1)LOH (2)No LOH
Right b1Mild atypiaNo LOHLOH (1)No LOHLOH (2)LOH (1)No LOHNo LOHNo LOH
Left a1ICMDFLOH (2)LOH (2)LOH (2)LOH (2)FLOH (1)LOH (2)
Left b1ICMDFFFLOH (1)FFFF
Right a2BenignNo LOHNRNRNRNRNRNRNo LOH
Right b2BenignNo LOHNRNRNRNRNRNRNo LOH
Left a2BenignNo LOHNRNRNRNRNRNRLOH (2)
3BRCA1Right a1BenignNo LOHNo LOHNo LOHNINo LOHNo LOHNo LOHNo LOH
Right a2BenignNo LOHNo LOHNo LOHNIFFNo LOHNo LOH
Left a2BenignNo LOHNo LOHNo LOHNINo LOHNo LOHNo LOHNo LOH
4BRCA1Right aICMDNo LOHNo LOHNo LOHNINo LOHNo LOHNo LOHNo LOH
5BRCA1Left aBenignNINo LOHNo LOHLOH (2)LOH (1)No LOHNINo LOH
6*BRCA2Right aBenignLOH (1)LOH (1)LOH (2)NILOH (1)NILOH (1)LOH (2)
Right bBenignLOH (1)LOH (1)No LOHNIFNILOH (2)No LOH
7BRCA2Right aBenignLOH (2)LOH (2)LOH (2)LOH (1)No LOHNILOH (1)No LOH
8*BRCA2Right aBenignNo LOHLOH (1)No LOHNo LOHNo LOHNo LOHNo LOHNo LOH
9BRCA2Right aICMDFLOH (1)LOH (2)No LOHNININo LOHNo LOH
Left aBenignLOH (1)LOH (1)LOH (2)No LOHNINILOH (1)F
10BRCA2Right a1BenignLOH (1)NILOH (2)NINILOH (1)LOH (2)No LOH
Right b1BenignNo LOHNINo LOHNINILOH (1)No LOHNo LOH
Left a1BenignNo LOHNINo LOHNINILOH (1)LOH (2)No LOH
Right a2ICMDLOH (1)NILOH (1)NINILOH (1)LOH (1)No LOH
Right c2ICMDFNIFNINILOH (1)FNo LOH
11*BRCA2Right aICMDNININo LOHNo LOHNo LOHLOH (1)No LOHNo LOH
12BRCA2Left aICMDNo LOHNINo LOHLOH (1)LOH (1)No LOHNILOH (2)
13*BRCA2Left aICMDFFFFFNIFLOH (1)
14*BRCA2Left aBenignLOH (1)NINo LOHNINILOH (1)FNo LOH
LOH rate9/229/168/228/136/128/179/205/27
15CONTROLLeft aBenignFNILOH (1)FLOH (1)FNINo LOH
16CONTROLRight aBenignNo LOHNo LOHNILOH (2)LOH (1)NININI
17CONTROLRight aBenignNo LOHNo LOHNo LOHNILOH (2)NILOH (1)No LOH
Left aBenignNo LOHNo LOHNo LOHNINo LOHNINo LOHNo LOH
LOH rate0/30/31/31/13/4NI1/20/3
  • NOTE: Ducts are identified as from the left or right breast. Individual ducts are identified sequentially as a, b, or c, and the suffix 1 or 2 indicates the first or second lavage visit, respectively. For example, Left a2 indicates sample that has been taken from the left breast, duct a at the second ductal lavage visit.

    Abbreviations: LOH (1), loss of smaller size allele; LOH (2), loss of larger size allele; NI, noninformative marker result; NR, no result available; F, PCR failure; ICMD, insufficient cellular material for diagnosis.

  • * BRCA2 carriers affected by contralateral breast cancer. Ductal lavage samples were collected only from their healthy unaffected breasts.

  • Subject 9 had previous atypia in both breasts on nipple aspirate fluid cytology and subsequently had mild atypia found in a ductal lavage sample taken from the right breast (not included in this study).

  • LOH rate is the number of samples with LOH per total number of informative DL sample results for each marker.