Table 1.

Characteristics of 20 families from Norway, France and the United States with the BRCA1 c.5407-25T>A variant.

Family	Index cancer diagnosis	Cancer diagnosis in first-degree relative, if index unaffected	Age at cancer diagnosis of index casea	Pathology of index cancera	Manchester scoreb
1	Female breastc		45–50	Ductal carcinoma, Er+/Pr+/Her2–, grade 1	4
2		Ovarian	35–40	Not available	14
3		Carcinomatosis, suspected ovarian cancer	55–60	Not available	21
4	Ovarian		45–50	Serous papillary cystadenocarcinoma	30
5	Ovarian		60–65	Serous papillary carcinoma, grade 3	12
6		Breast	30–35	Not available	18
7	Female breastc		60–65	Infiltrating ductal carcinoma, Er+/Pr+/Her2–, grade 1	19
8		Breast	65–70	Adenocarcinoma	8
9	Female breast		45–50	Infiltrating ductal carcinoma, triple negative	10
10		Ovarian	60–65	Serous papillary carcinoma, grade 3	12
11	Ovarian		65–70	High-grade serous	15
12	Ovarian		55–60	Granulosa cell tumour	26
13	Female breast		55–60	DCIS, grade 3	12
14	Female breast		50–55	Infiltrating ductal and DCIS, Er+/Pr+/ Her2–	31
15	Ovarian		60–65	High-grade serous	12
16	Male breast		45–50	Invasive ductal adenocarcinoma, grade 2 HR+/Her2–	20
17	Female breast		35–40	Ductal carcinoma, Er+/Pr+/Her2–, grade 3	17
18	Female breast		55–60	Lobular carcinoma, Er+/Pr+/Her2–, grade 2	3
19	Female breast		60–65	Infiltrating carcinoma, triple negative	6
20	Female breast		45–50	Multifocal lobular carcinoma and Er+/Pr+/Her2–, grade 2	37

^aDiagnosis in first-degree relative, if the index was unaffected.

^bCombined Manchester score calculated as described in Evans et al. (MSS3) [20].

^cPreviously reported in Høberg-Vetti et al. [10].