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. 2019 Jul 30;10(46):4786–4801. doi: 10.18632/oncotarget.27102

Table 4. Recommendations of the Cancer and Genetics Group and the French National Institute of Cancer concerning gene panel analyses in the context of a hereditary predisposition to breast and ovarian cancers (Adapted from [57]).

Gene Cytogenetic location Penetrance Protein functions Cumulate risk of breast cancer References
BRCA1 17q21.31 High Repair of DNA double-strand breaks using homologous recombination, cell cycle control, maintaining of genome integrity 46–87% lifetime risk [88, 89]
BRCA2 13q13.1 High Repair of DNA double-strand breaks using homologous recombination 38–84% lifetime risk [88, 90]
PALB2 16p12.2 Moderate Partner of BRCA2 and regulator of its stability and its nuclear localization 35% at 70 years [91, 92]
TP53 17p13.1 High Transcription Factor, cellular cycle, apoptosis, senescence, DNA Repair 80% life-time risk (premenopausal) [93, 94]
CDH1 16q22.1 Moderate E-cadherin, cellular adhesion molecule 39–52% before 40 years (lobular cancer) [95, 96]
PTEN 10q23.31 High Tumor phosphatase suppressor inhibiting PI3K and MAPK pathways 25–50% lifetime risk [97, 98]
RAD51C 17q22 Moderate Repair of DNA using homologous recombination in interaction with BRCA1/2 Not known [99102]
RAD51D 17q12 Moderate Repair of DNA using homologous recombination and maintaining of telomere Not known [103105]
MLH1 3p22.2 High Mismatch repair system 5–18% [106111]
MSH2 2p21-p16
MSH6 2p16.3 Moderate Not known
PMS2 7p22.1
EPCAM 2p21 Partner of MSH2