Phenotype: Breast carcinoma (HP:0003002)
Associated genes and diseases:
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: AXIN2
disease_id: OMIM:608615
disease_name: OLIGODONTIA-COLORECTAL CANCER SYNDROME
gene_symbol: RNF43
disease_id: ORPHA:157798
disease_name: Serrated polyposis syndrome
Hyperplastic polyposis syndrome
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: NTHL1
disease_id: ORPHA:454840
disease_name: NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related AFAP
NTHL1-related attenuated FAP
gene_symbol: NTHL1
disease_id: OMIM:616415
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 3
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI SYNDROME
gene_symbol: TP53
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: TP53
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: TP53
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: RAD51C
disease_id: OMIM:613399
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
gene_symbol: RAD51C
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: ERBB2
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: AKT1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: AKT1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: CTNNB1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CDH1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CDH1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: OPCML
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PIK3CA
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PIK3CA
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: PRKN
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:135290
disease_name: DESMOID DISEASE, HEREDITARY
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: BRIP1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRIP1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: NQO2
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: PHB1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: HMMR
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BARD1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BARD1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PPM1D
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: KRAS
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: SLC67A1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRCA2
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRCA2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRCA2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: BRCA2
disease_id: OMIM:612555
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
gene_symbol: RB1CC1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: ATM
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: ESR1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: XRCC3
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: RAD51
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: RAD51
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD54L
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: CASP8
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRCA1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRCA1
disease_id: OMIM:604370
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
gene_symbol: BRCA1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: BRCA1
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: POLE
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: POLD1
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: PALB2
disease_id: OMIM:620442
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 5
gene_symbol: PALB2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PALB2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CDKN2A
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: OMIM:609265
disease_name: LI-FRAUMENI SYNDROME 2
gene_symbol: CHEK2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51D
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PTEN
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: RAD50
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: NBN
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: MRE11
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: OMIM:615107
disease_name: COWDEN SYNDROME 4
gene_symbol: RABL3
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: SMAD4
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALLD
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: IDH2
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH1
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type