High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population

Table 3 Results

Nr.	Mutation	Clinical significance of mutation	NCCN inclusion criteria	Manchester score [13]	Swedish Breast cancer group criteria for screening of mutation in BRCA1 and BRCA2
1	RAD50c.980G > A	VUS	NCCN4	17	One case of male breast cancer
2	BRCA1c.5075-?_5152 +?del	PAT	NCCN2	29	One case of triple-negative breast cancer ≤age 40
3	BRCA1c.1-?_c.134 +?del	PAT	NCCN3	20	One case of breast cancer ≤age 35
4	BRCA2c.6998dupT	PAT	NCCN4	19	Breast cancer and ovarian cancer in one individual.
5	BRCA1c.5117G > A	PAT	NCCN5	15	Do not match
6	RAD50c.251 T > A	VUS	NCCN4
6	MRE11Ac.1715G > A	VUS		6	NA
7	BRCA1c.1961delA	PAT	NCCN3	14	Do not match
8	BRCA2c.280C > T	VUS	NCCN4	14	Do not match
9	BRCA1c.5117G > A	PAT	NCCN4	16	Do not match
10	BRCA1c.4996_4997dupTA	PAT	NCCN4	20	One case of triple-negative breast cancer ≤age 40
11	Negative	Negative	NCCN4	2	Do not match
12	Negative	Negative	NCCN1	2	Do not match
13	Negative	Negative	NCCN3	8	Do not match
14	Negative	Negative	NCCN1	8	Do not match
15	CDH1 c.808 T > G	VUS	NCCN4	8	Do not match
16	Negative	Negative	NCCN1	0	Do not match

PAT, pathological; VUS, variant of uncertain significance; *Triple-negative breast cancer was defined as ER-0%; PR-0%; HER2- negative;

ISSN: 1897-4287