Intronic TP53 Germline Sequence Variants Modify the Risk in German Breast/Ovarian Cancer Families

Table 1 Characteristics and TP53 sequence variants in German breast/ovarian cancer families

Family	No. of breast cancers (age at diagnosis)	No. of ovarian cancers	Other cancers (age at diagnosis)	TP53 mutation
19	6 (38,39,45,45,49,50)	2	Lung (<45), 2× liver, vulva, colon (39), fallopian tube (49)	IVS6, 13964 G>C
26	3 (34,36,44)	0	Hodgkin's disease (22)	IVS6, 13964 G>C
P328 a	3 (34,51,67)	0	5× prostate (52,59,70,75, <84), skin (43)	IVS6, 13964 G>C
89	5 (40,45,48,51,70)	0	Cervix, colon, cancer of unknown type	IVS10, 17708 A>T
128	5 (30,45,52,53,64) ^b	0	Brain, stomach/lung	IVS10, 17708 A>T
P313	3 (43, 47) c	0	Malignant melanoma (51), sarcoma (61)	IVS10, 17708 A>T

^a Family P328 also carries a Tyr179Cys missense mutation of the BRCA1 gene. This mutation was described 35 times previously to the BIC database (39).
^b Including a male breast cancer.
^c One patient's age at diagnosis is unknown.

ISSN: 1897-4287