Table 1 Epidemiological and clinical features of the participants

Epidemiological features		Cases				p-value
Epidemiological features		N = 231	100%	N = 156	100%
Age		Mean ± S.D.	n (%)	Mean ± S.D.	n (%)
	<40 years	34.5 ± 3.6	76 (32.9)	34.4 ± 3.9	66 (42)	0.746^a
	40–50 years	43.4 ± 2.5	123 (53.2)	42.4 ± 1.7	91 (58)	0.002^a
	>50 years	58.6 ± 5.2	20 (8.7)	N/A	0 (0)	N/A
	Unknown	N/A	12 (5.2)	N/A	0 (0)	N/A
BMI	<18.5 underweight	17.5 ± 1.2	2 (0.9)	N/A	0 (0)	N/A
	18.5 < 25 normal weight	23 ± 1.3	73 (31.6)	22.4 ± 1.7	25 (16)	0.159^a
	25 < 30 overweight	27.5 ± 1.5	91 (39.4)	27.7 ± 1.5	64 (41)	0.610^b
	30 < 40 obesity	32.8 ± 2.4	49 (21.2)	33.3 ± 2.4	55 (35.3)	0.260^a
	>40 extreme obesity	46.7 ± 1.0	2 (0.9)	47.1 ± 5.9	12 (7.7)	N/A
	Unknown	N/A	14 (6.1)	N/A	0 (0)	N/A
Menarche	<12 years. Early	10.5 ± 0.8	42 (18.2)	10.4 ± 0.9	37 (24.2)	0.714^a
	12 < 14 years. Normal	12.9 ± 0.8	148 (64.1)	12.6 ± 0.7	102 (65)	0.008^a
	>14 years. Late	15.3 ± 0.8	26 (11.3)	15.5 ± 0.9	17 (10.8)	0.283^a
	Unknown	N/A	15 (6.5)	N/A	0 (0)	N/A
Menopause		n	%	n	%
	Yes	71	30.7	7	4.5	1.03E−10^c
	No	147	63.6	149	95.5	1.03E−10^c
	Unknown	13	5.6	0	0.0	N/A
Family history of cancer^d	Yes	193	83.5	34	21.8	2.2E−16^c
	No	33	14.3	122	78.2	2.2E−16^c
	Unknown	5	2.2	0	0.0	N/A

BMI Body Mass Index, DCIS Ductal Carcinoma in situ, LCIS lobular carcinoma in situ, IDC invasive ductal carcinoma, ILC invasive lobular carcinoma, MC medullary carcinoma, ER estrogen receptor, PR progesterone receptor, N/A Data not available or not applicable.
^aWilcoxon rank-sum test.
^bt-test.
^cChi-square test.
^dThe 231 cancer patients have a family history of breast, ovarian and cancers associated with HBOC, based on the NCCN criteria. The 156 healthy controls do not have family history of BC but may have family history of other types of cancer.
^eThe mutational status according to the presence of a pathogenic genetic variant in any of the 143 genes analyzed²⁰.

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