A common missense variant in BRCA2 predisposes to early onset breast cancer

Breast Cancer Research

Table 2 Characteristics of breast cancers associated with 5972C/T or TT variants and wild-type BRCA2 sequence

	5972C/T or TT		Wild type		OR^a	p-value	95% CI
	N	%	N	%
Histology
Medullary	7	6	122	7	0.86	0.71	[0.4–1.9]
Ductal	41	36	607	35	1.04	0.83	[0.7–1.5]
Tubular or tubulo-lobular	3	3	104	6	0.42	0.13	[0.1–1.3]
Lobular	22	19	364	21	0.90	0.70	[0.5–1.5]
DCIS+micro-invasion	22	19	121	7	3.18	<0.0001	[1.9–5.2]
Other	19	17	416	24	0.63	0.09	[0.4–1.0]
Multifocal	19	30	211	23	1.47	0.17	[0.8–2.6]
Bilateral	7	5	63	3	1.71	0.18	[0.7–3.8]
ER+	50	67	586	62	1.24	0.40	[0.7–2.0]
Family history+^b
All patients	32	21	569	26	0.72	0.14	[0.5–1.2]
Diagnosed at <40 years	4	10	97	24	0.36	0.06	[0.1–1.1]
	0		0		0	p-value	95% CI
Mean age (years)^c	43.9		44.4		0.5	0.34	[-0.5–1.5]
Mean tumor size (cm)^c	2.0		2.1		0.1	0.41	[-0.1–0.3]

^aOdds ratios (ORs) for individual variables represent the odds of being a mutation carrier for a woman with a particular characteristic, compared to all other women who did not have the characteristic. For histology the comparisons were made for one histological group to all other histologies. ^bFamily history+ indicates the occurrence of one or more breast or ovarian cancers among first and second degree relatives. ^cFor age and tumor size comparisons, p-values and confidence intervals refer to the difference of means. Data were missing from the following categories and these cases were excluded from the specific calculations: histology (909 cases), multi-focality (1,774 cases); bilaterality (744 cases), estrogen receptor status (1,746 cases), family history (756 cases), family history in group diagnosed <40 (150 cases). Patients who received neo-adjuvant chemotherapy were excluded from all analyses with the exception of family history. 184 patients with BRCA1 mutations were excluded from all analyses. ER+, estrogen receptor expression positive.

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