Table 2 Summary of the syndromes associated with hereditary breast cancer
Syndrome (OMIM)Gene involved and cytobandClinical features
Hereditary Breast Cancer and ovarian cancer syndrome (113705)BRCA1 (17q21)Breast cancer, high risk (50–80%)
Ovarian cancer, high risk (40–50%)
Hereditary Breast Cancer and ovarian cancer syndrome (600185)BRCA2 (13q12.3)Breast cancer, high risk (50–70%)
Ovarian cancer, intermediate risk (10%)
Prostate cancer
Pancreatic cancer
CHEK2 mutations (Li–Fraumeni 2 syndrome?)CHEK2 (22q12.1)Breast cancer, intermediate risk (∼twofold)
Brain tumours
Other FANC genes (114480, 610355, 607139, 600901, 605882)PALB2/FANCN (16p12)PALB2/FANCN and BRIP1/FANCJ: moderate risk of breast cancer development
FANCA (16q24.3)The other FANC genes: low risk of breast cancer development
FANCE (6p22–p21)
BRIP1/FANCJ (17q22)
Familial-linitis-plastic type gastric cancer and lobular breast carcinomas syndrome (192090)CDH1 (16q22.1)Gastric cancer
Lobular breast cancer
Louis–Bar syndrome (208900)ATM (11q22.3)Lymphoma
Cerebellar ataxia
Immune deficiency
Breast cancer
Li–Fraumeni syndrome (151623)TP53 (17p13.1)High penetrance for breast cancers at young age
Risk of soft-tissue sarcomas and osteosarcomas, brain tumours, leukaemia and adrenocortical carcinoma
Cowden syndrome (158350)PTEN (10q23.31)Increased risk of developing neoplasms (breast cancer, thyroid carcinoma, endometrial carcinoma and others)
Hamartomatous polyps of the gastrointestinal tract
Mucocutaneous lesions
Bannayan–Riley–Rivalcaba syndrome (153480)PTEN (10q23.31)Breast cancer
Follicular cells tumours of the thyroid
Peutz–Jeghers syndrome (175200)STK11 (19p13.3)Melanocytic macules of the lips, buccal mucosa and digits
Multiple gastrointestinal hamartomatous polyps
Increased risk of various neoplasms (breast, testis, pancreas and cervix)
Lynch cancer family syndrome II (114400)MSH2 (2p22–p21), MSH3 (5q11–q12), MSH6 (2P16), MLH1 (3p21.3), PMS1 (2q31–q33), PMS2 (7p22)Increased risk of endometrial carcinoma and colorectal carcinoma
High risk of multiple primary malignant neoplasms, including breast, ovarian, gastrointestinal and genitourinary carcinomas, sarcomas, glioblastoma and leukaemia