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Table 1 Genes with intermediate to high penetrance mutations for breast cancer

From: Hereditary breast cancer: ever more pieces to the polygenic puzzle

Gene Monoallelic mutation Biallelic mutations Risk for breast cancer Reference
BRCA1 Breast and ovarian cancer Microcephaly and growth disorder high [7, 23]
BRCA2 Breast and ovarian cancer Fanconi anemia type D1 high [8, 24]
TP53 Li Fraumeni Syndrome - high [5, 6]
PTEN PTEN harmatoma tumour syndrome (Cowden Disease) - high [9, 10]
LKB1 Peutz-Jeghers Syndrome - high [11, 12]
MLH1 Lynch Syndrome - probably intermediate (high for endometrial and colon cancer) [13]
MSH2 Lynch Syndrome/Muir-Torre Syndrome - probably intermediate (high for endometrial and colon cancer) [13]
CDH1 Lobular breast cancer, diffuse gastric cancer - high [16, 17]
PALB2 Breast cancer Fanconi anemia type N intermediate to high [25, 26]
UIMC1 Breast cancer1 - level not yet known [27]
FAM175A Breast cancer1 - level not yet known [28]
RAD51C Breast and ovarian cancer2 Fanconi anemia type O low to intermediate (high for ovarian cancer) [29, 30]
RAD51D Breast and ovarian cancer2 - low to intermediate (high for ovarian cancer) [31, 32]
BRIP1 Breast and ovarian cancer Fanconi anemia type J low to intermediate (high for ovarian cancer) [33, 34]
ATM Breast cancer, pancreatic cancer Ataxia telangiectasia intermediate [15, 3539]
MRE11A Breast cancer1 Ataxia telangiectasia-like disorder level not yet known [40]
NBN Breast cancer, prostate cancer Nijmegen Breakage syndrome intermediate [4143]
RAD50 Breast cancer Nijmegen Breakage-like disorder intermediate [44]
BLM Breast cancer Bloom’s Syndrome intermediate [45, 46]
FANCC Breast cancer1 Fanconi anemia type C intermediate in FA blood relatives [47, 48]
FANCM Breast cancer1 Fanconi anemia type M probably intermediate [49]
SLX4 Breast cancer1 Fanconi anemia type P level not yet known [50, 51, 84]
XRCC2 Breast cancer1 - level not yet known [52, 82]
CHEK2 Breast cancer,
prostate cancer
breast cancer intermediate [5358]
PPM1D Breast cancer3, ovarian cancer3 - possibly intermediate (high for ovarian cancer), non-inherited [59]
  1. Legend to Table 1:
  2. Twenty-five known or currently debated susceptibility genes harbouring intermediate or high risk mutations for breast cancer. Several of them give rise to developmental syndromes in the homozygous or compound heterozygous state as listed in the third column. The risk ranges for monoallelic mutations, as provided in column 4, are estimates for breast cancer from either family studies or case–control studies; intermediate risk 2–5, high risk > 5. 1Mutations in UIMC1, FAM175A, MRE11A, FANCC, FANCM, SLX4 and XRCC2 have been observed in very few breast cancer patients so far, therefore their possible risks are yet poorly defined. 2Mutations in RAD51C and RAD51D have been observed in breast cancer patients with a family history of ovarian cancer suggesting that they are primarily ovarian cancer susceptibility genes. 3Mutations in PPM1D are non-inherited, somatic mosaic mutations that have been reported to be associated with breast and ovarian cancer.