Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal breast morphology (HP:0031093)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the breast (HP:0100013)

..Starting node
..Breast carcinoma (HP:0003002)

Term ID:

3002

Name:

Breast carcinoma

Synonym:

Breast cancer

Definition:

The presence of a carcinoma of the breast.

Comments:

Reference:

HP:0003002

Genes and Diseases:

Child Nodes:

........

Multifocal breast carcinoma (HP:0006625)

Sister Nodes:

Ductal carcinoma in situ (HP:0030075)

Fibroadenoma of the breast (HP:0010619)

Lobular carcinoma in situ (HP:0030076)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003002	HP:0003002	Breast carcinoma	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional	7
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	391	OMIM:114480	Breast cancer	.	54
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0003002	HP:0003002	Breast carcinoma	0	AKT1 CL E G H	207	391	OMIM:167000	Ovarian cancer	.	54
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0003002	HP:0003002	Breast carcinoma	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0003002	HP:0003002	Breast carcinoma	0	ATM CL E G H	472	795	OMIM:114480	Breast cancer	.	3267
HP:0003002	HP:0003002	Breast carcinoma	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	HP:0040283 - Occasional	168
HP:0003002	HP:0003002	Breast carcinoma	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0003002	HP:0003002	Breast carcinoma	0	BARD1 CL E G H	580	952	OMIM:114480	Breast cancer	.	790
HP:0003002	HP:0003002	Breast carcinoma	0	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	790
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1100	OMIM:114480	Breast cancer	.	5769
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1100	OMIM:604370	Breast-Ovarian cancer, familial, susceptibility to, 1		5769
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	5769
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1101	OMIM:114480	Breast cancer	.	7642
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1101	OMIM:612555	Breast-Ovarian cancer, familial, susceptibility to, 2	.	7642
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0003002	HP:0003002	Breast carcinoma	0	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	7642
HP:0003002	HP:0003002	Breast carcinoma	0	BRIP1 CL E G H	83990	20473	OMIM:114480	Breast cancer	.	1086
HP:0003002	HP:0003002	Breast carcinoma	0	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	1086
HP:0003002	HP:0003002	Breast carcinoma	0	CASP8 CL E G H	841	1509	OMIM:114480	Breast cancer	.	37
HP:0003002	HP:0003002	Breast carcinoma	0	CDH1 CL E G H	999	1748	OMIM:114480	Breast cancer	.	1003
HP:0003002	HP:0003002	Breast carcinoma	0	CDH1 CL E G H	999	1748	OMIM:167000	Ovarian cancer	.	1003
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0003002	HP:0003002	Breast carcinoma	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040282 - Frequent	289
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	16627	OMIM:114480	Breast cancer	.	833
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	833
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040282 - Frequent	833
HP:0003002	HP:0003002	Breast carcinoma	0	CHEK2 CL E G H	11200	16627	OMIM:609265	LI-FRAUMENI SYNDROME 2; LFS2		833
HP:0003002	HP:0003002	Breast carcinoma	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040283 - Occasional	2
HP:0003002	HP:0003002	Breast carcinoma	0	CTNNB1 CL E G H	1499	2514	OMIM:167000	Ovarian cancer	.	88
HP:0003002	HP:0003002	Breast carcinoma	0	ERBB2 CL E G H	2064	3430	OMIM:167000	Ovarian cancer	.	77
HP:0003002	HP:0003002	Breast carcinoma	0	ESR1 CL E G H	2099	3467	OMIM:114480	Breast cancer	.	13
HP:0003002	HP:0003002	Breast carcinoma	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0003002	HP:0003002	Breast carcinoma	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0003002	HP:0003002	Breast carcinoma	0	HMMR CL E G H	3161	5012	OMIM:114480	Breast cancer	.
HP:0003002	HP:0003002	Breast carcinoma	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0003002	HP:0003002	Breast carcinoma	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0003002	HP:0003002	Breast carcinoma	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0003002	HP:0003002	Breast carcinoma	0	KLLN CL E G H	100144748	37212	OMIM:615107	Cowden syndrome 4		1
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	6407	OMIM:114480	Breast cancer	.	196
HP:0003002	HP:0003002	Breast carcinoma	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0003002	HP:0003002	Breast carcinoma	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040282 - Frequent	1
HP:0003002	HP:0003002	Breast carcinoma	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare	281
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0003002	HP:0003002	Breast carcinoma	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0003002	HP:0003002	Breast carcinoma	0	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	532
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0003002	HP:0003002	Breast carcinoma	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0003002	HP:0003002	Breast carcinoma	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0003002	HP:0003002	Breast carcinoma	0	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	706
HP:0003002	HP:0003002	Breast carcinoma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040284 - Very rare	1952
HP:0003002	HP:0003002	Breast carcinoma	0	NQO2 CL E G H	4835	7856	OMIM:114480	Breast cancer	.
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3	.	2
HP:0003002	HP:0003002	Breast carcinoma	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	2
HP:0003002	HP:0003002	Breast carcinoma	0	OPCML CL E G H	4978	8143	OMIM:167000	Ovarian cancer	.	5
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	26144	OMIM:114480	Breast cancer	.	1349
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0003002	HP:0003002	Breast carcinoma	0	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	1349
HP:0003002	HP:0003002	Breast carcinoma	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0003002	HP:0003002	Breast carcinoma	0	PHB1 CL E G H	5245	8912	OMIM:114480	Breast cancer	.
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:114480	Breast cancer	.	162
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0003002	HP:0003002	Breast carcinoma	0	PIK3CA CL E G H	5290	8975	OMIM:167000	Ovarian cancer	.	162
HP:0003002	HP:0003002	Breast carcinoma	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	731
HP:0003002	HP:0003002	Breast carcinoma	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040283 - Occasional	1129
HP:0003002	HP:0003002	Breast carcinoma	0	PPM1D CL E G H	8493	9277	OMIM:114480	Breast cancer	.	22
HP:0003002	HP:0003002	Breast carcinoma	0	PRKN CL E G H	5071	8607	OMIM:167000	Ovarian cancer	.	138
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0003002	HP:0003002	Breast carcinoma	0	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	948
HP:0003002	HP:0003002	Breast carcinoma	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0003002	HP:0003002	Breast carcinoma	0	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	789
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51 CL E G H	5888	9817	OMIM:114480	Breast cancer	.	9
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	9
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51C CL E G H	5889	9820	OMIM:613399	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3		391
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	391
HP:0003002	HP:0003002	Breast carcinoma	0	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	345
HP:0003002	HP:0003002	Breast carcinoma	0	RAD54L CL E G H	8438	9826	OMIM:114480	Breast cancer	.	5
HP:0003002	HP:0003002	Breast carcinoma	0	RB1CC1 CL E G H	9821	15574	OMIM:114480	Breast cancer	.	2
HP:0003002	HP:0003002	Breast carcinoma	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare	5
HP:0003002	HP:0003002	Breast carcinoma	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0003002	HP:0003002	Breast carcinoma	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0003002	HP:0003002	Breast carcinoma	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0003002	HP:0003002	Breast carcinoma	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7	.	60
HP:0003002	HP:0003002	Breast carcinoma	0	SLC22A18 CL E G H	5002	10964	OMIM:114480	Breast cancer	.	3
HP:0003002	HP:0003002	Breast carcinoma	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040283 - Occasional	12
HP:0003002	HP:0003002	Breast carcinoma	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0003002	HP:0003002	Breast carcinoma	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	11998	OMIM:114480	Breast cancer	.	911
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040282 - Frequent	911
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040282 - Frequent	911
HP:0003002	HP:0003002	Breast carcinoma	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0003002	HP:0003002	Breast carcinoma	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0003002	HP:0003002	Breast carcinoma	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0003002	HP:0003002	Breast carcinoma	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040283 - Occasional	310
HP:0003002	HP:0003002	Breast carcinoma	0	XRCC3 CL E G H	7517	12830	OMIM:114480	Breast cancer	.	2
HP:0003002	HP:0006625	Multifocal breast carcinoma	1	CL E G H

Genes (66) :AAGAB AKT1 APC ATM ATR AXIN2 BARD1 BRCA1 BRCA2 BRIP1 CASP8 CDH1 CDKN2A CHEK2 COL14A1 CTNNB1 ERBB2 ESR1 FGFR2 GNAS HMMR IDH1 IDH2 KLLN KRAS MDM2 MEFV MLH1 MRE11 MSH2 MSH6 NBN NF1 NQO2 NTHL1 OPCML PALB2 PALLD PHB1 PIK3CA POLD1 POLE PPM1D PRKN PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RAD54L RB1CC1 RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SLC6A17 SMAD4 STK11 TP53 TWIST1 USF3 WRN XRCC3

Diseases (38) :ORPHA:79501 OMIM:114480 ORPHA:201 OMIM:615109 OMIM:167000 ORPHA:247806 OMIM:135290 ORPHA:79665 OMIM:614564 OMIM:608615 ORPHA:145 OMIM:604370 ORPHA:1333 OMIM:617883 OMIM:612555 ORPHA:524 OMIM:609265 OMIM:101400 ORPHA:562 ORPHA:163634 OMIM:615107 ORPHA:3243 OMIM:158320 ORPHA:587 ORPHA:97685 OMIM:616415 ORPHA:454840 OMIM:615108 ORPHA:447877 OMIM:158350 OMIM:613399 ORPHA:157798 OMIM:616858 ORPHA:457212 ORPHA:2869 OMIM:175200 OMIM:151623 ORPHA:902

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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