Table 1

Protein-truncating mutations in BRCA1 and BRCA2 detected in cases and disease and carrier status of female relatives and fathers

FamilyMutationAge at onset (yr)Female relatives (Relationshipa/observation timeb/carrier statusc)Carrier status of father
AffectedUnaffected
A. BRCA1
C8321806 C→T stop28PG/43/oM/60/oMA/61/oPA/61/oo
PA/62/oPA/64/oMG/51/o
C6423818 del GTAAA37NoneM/65/−S/37/−PA/66/o(+)
PG/64/o
C4133273 del A38NoneM/72/−S/44/+PG/82/o+
C6132800 del AA26NoneM/63/−PG/90/o+
C5213415 del C34NoneM/64/oS/31/oMA/58/oo
MA/60/oMA/68/oPA/66/o
MG/59/oPG/80/o
C3124184 del TCAA35NoneM/70/oS/45/oMA/60/oo
MA/69/oMA/59/oMG/49/o
B6913450 del CAAG23NoneM/58/oS/25/oPA/54/oo
PA/56/oMA/60/oMG/70/o
PG/83/o
C9511876 del C37M/48/−None(+)
C042188 del 1128???
B. BRCA2
C2716503 del T36M/65/+S/50/+dS/42/−MG/64/o
MA/56/(+)
MA/38/o
B7416503 del T33M/54/+S/32/−MA/37/oMG/78/o
B7704113 del A37MA/53/oMA/49/oMG/96/oPG/80/oo
M/32/oe
B4816174 del T39M/59/oPG/76/oo
B2616174 del T29NoneM/68/oMG/28/oo
C4016174 del T32NoneM/56/−S/31/+PG/90/o+
C9714393 del T36NoneM/58/oS/34/oMA/56/oo
MA/61/oMA/63/oMA/70/o
MG/76/oPG/83/o
C0025803 del ATTA34NoneM/72/oS/31/−MA/56/oo
PA/29/oPA/69/oMG/88/o
PG/79/o
C5024856 del A39NoneM/68/oS/29/oS/33/oo
S/34/−S/36/+S/37/+
S/40/oS/43/−MG/80/o
PG/70/o
  • a S, sister; M, mother; MA, maternal aunt; PA, paternal aunt; MG, maternal grandmother; PG, paternal grandmother.

  • b Observation time = age at onset, if affected, or age or age at death if unaffected.

  • c Carrier status:+, proven carrier, (+), obligate carrier, −, proven non-carrier, o, unknown carrier status.

  • d This woman later developed breast and ovarian cancer; see text.

  • e This woman was reported to have had cancer, but the site was not known, and the cancer was not verified. In all analyses, it has been assumed that she had breast cancer.