Table 1.

Overview of hereditary dispositions, risks of disease and measures

Gene	Lifetime risk for breast cancer	[Ref.]	Intensified early detection	Risk-reducing mastectomy
BRCA1	65% (44–78%)	[18, 19, 20, 21]	yes	reasonable option
BRCA2	55% (51–70%)	[18, 19, 20, 21]	yes	reasonable option
PALB2	risk of breast carcinoma increased 3–5 times, depending on family anamnesis	[9, 10]	yes	case-by-case decision
CHECK2	risk of breast carcinoma increased 2–5 times, depending on family anamnesis and mutation	[6, 7]	yes	case-by-case decision
CDH1	lobular breast carcinomas 30–50%	[2]	yes	case-by-case decision
TP53	approx. 50%	[1]	yes	case-by-case decision
PTEN	80%	[3]	yes	no
STK11	30–50%	[4]	yes	no
ATM	risk of breast carcinoma increased 2–4 times, depending on family anamnesis	[11, 12]	yes	no
RAD51 C	risk of ovarian carcinoma possibly 20–40%, risk of breast carcinoma uncertain, depending on family anamnesis	[6, 13]	yes	no recommendation of prophylactic adnexectomy
RAD51 D	risk of ovarian cancer uncertain, possibly 10%, risk of breast c arcinoma uncertain	[13, 14]	yes	no prophylactic adnexectomy possible in case of further ovarian carcinomas in the family
NBN	risk of breast carcinoma increased 2–3 times, depending on family anamnesis	[18, 19]	yes	no
LYNCH syndrome (MLH1, MSH2, MSH6, PMS2)	colorectal carcinomas 80%, endometrium carcinomas 20–60%, ovarian carcinomas 10%	[15]		no