Search results for "breast cancer"

All results
56
Scores
16
Traits
20
Publications
20

breast cancer

MONDO_0007254
Cancer
A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. [NCIT: C9335]
Associated PGS 147 Show Reported Traits
A subtype of breast cancer that is estrogen-receptor positive [EFO: 1000649]
Associated PGS 7 Show Reported Traits

breast carcinoma

EFO_0000305
Cancer
A carcinoma that arises from epithelial cells of the breast
Associated PGS 147 Show Reported Traits
A subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650]
Associated PGS 8 Show Reported Traits

family history of breast cancer

EFO_0005606
Other trait
A reported family history of breast cancer in one or more family members.
Associated PGS 1 Show Reported Traits

triple-negative breast cancer

EFO_0005537
Cancer
An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). [NCIT: P378]
Associated PGS 1 Show Reported Traits
Editor note: check why not in NCIT; note also that triple-negative should be classified here
Associated PGS 1 Show Reported Traits

HER2 negative breast carcinoma

EFO_0009780
Cancer
A biologic subset of breast carcinoma defined by absence of HER2.
Associated PGS 2 Show Reported Traits

luminal B breast carcinoma

MONDO_0021115
Cancer
A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. [NCIT: C53555]
Associated PGS 1 Show Reported Traits

luminal A breast carcinoma

MONDO_0021116
Cancer
A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. [NCIT: C53554]
Associated PGS 1 Show Reported Traits

HER2 Positive Breast Carcinoma

EFO_1000294
Cancer
A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). [NCIT: C53556]
Associated PGS 1 Show Reported Traits

breast tumor luminal

EFO_0000306
Cancer
Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. [NCIT: C53554] [NCIT: C53555]
Associated PGS 2 Show Reported Traits
Name: breast_cancerNumber of Variants: 1,044,110Publication ID: PGP000596
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Hu J et al. (2024) - JNCI Cancer SpectrPMID:38366150doi:10.1093/jncics/pkae008PGP000596
PGS developed 8 - PGS evaluated 8
Mavaddat N et al. (2018) - Am J Hum GenetPMID:30554720doi:10.1016/j.ajhg.2018.11.002PGP000002
PGS developed 6 - PGS evaluated 9
Kramer I et al. (2020) - Am J Hum GenetPMID:33022221doi:10.1016/j.ajhg.2020.09.001PGP000109
PGS developed 0 - PGS evaluated 4
Monti M R et al. (2023) - medRxivdoi:10.1101/2023.11.20.23298215PGP000517
PGS developed 184 - PGS evaluated 184
Lopes Cardozo JMN et al. (2023) - J Clin OncolPMID:36689693doi:10.1200/jco.22.01978PGP000572
PGS developed 0 - PGS evaluated 1
Name: disease.breast_cancer.scoreNumber of Variants: 1,059,939Publication ID: PGP000561
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: breast_cancer_PRSmix_eurNumber of Variants: 3,666,245Publication ID: PGP000604
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: meta.breast_cancer.scoreNumber of Variants: 1,059,939Publication ID: PGP000561
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Gao C et al. (2021) - J Clin OncolPMID:34101481doi:10.1200/jco.20.01992PGP000612
PGS developed 3 - PGS evaluated 3

breast neoplasm

EFO_0003869
Cancer
A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. [NCIT: C2910]
Associated PGS 147 Show Reported Traits

breast disease

EFO_0009483
Other disease
A disease involving the breast.
Associated PGS 147 Show Reported Traits

thoracic cancer

MONDO_0003274
Cancer
A primary or metastatic malignant neoplasm affecting the tissues of the thorax. [NCIT: C3576]
Associated PGS 183 Show Reported Traits

neoplasm of thorax

MONDO_0021350
Cancer
A neoplasm (disease) that involves the thoracic segment of trunk. [MONDO: patterns/location]
Associated PGS 183 Show Reported Traits
Maguire S et al. (2021) - J Natl Cancer InstPMID:32785646doi:10.1093/jnci/djaa101PGP000167
PGS developed 0 - PGS evaluated 3

integumentary system disease

EFO_0010285
Other disease
A disease involving the integumental system.
Associated PGS 251 Show Reported Traits
Name: breast_cancer_PRSmixPlus_eurNumber of Variants: 3,666,321Publication ID: PGP000604
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305

carcinoma

EFO_0000313
Cancer
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. [NCIT: C2916]
Associated PGS 425 Show Reported Traits

epithelial neoplasm

EFO_0006858
Cancer
A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [NCIT: C3709]
Associated PGS 426 Show Reported Traits

cancer

MONDO_0004992
Cancer
A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. [NCIT: C9305]
Associated PGS 547 Show Reported Traits
Lacaze P et al. (2021) - Cancers (Basel)PMID:34298747doi:10.3390/cancers13143533PGP000247
PGS developed 0 - PGS evaluated 1
Jee YH et al. (2022) - Int J EpidemiolPMID:36343017doi:10.1093/ije/dyac206PGP000415
PGS developed 4 - PGS evaluated 4
Mao X et al. (2023) - J Natl Cancer InstPMID:37243694doi:10.1093/jnci/djad101PGP000553
PGS developed 0 - PGS evaluated 1
Shieh Y et al. (2023) - NPJ Precis OncolPMID:37188791doi:10.1038/s41698-023-00382-zPGP000590
PGS developed 1 - PGS evaluated 1
Name: dbslmm.auto.GCST004988.Breast_cancerNumber of Variants: 1,137,459Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: lassosum.auto.GCST004988.Breast_cancerNumber of Variants: 13,086Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: megaprs.CV.GCST004988.Breast_cancerNumber of Variants: 869,407Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: prscs.auto.GCST004988.Breast_cancerNumber of Variants: 1,103,877Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: sbayesr.auto.GCST004988.Breast_cancerNumber of Variants: 950,524Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: megaprs.auto.GCST004988.Breast_cancerNumber of Variants: 869,407Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Mavaddat N et al. (2015) - J Natl Cancer InstPMID:25855707doi:10.1093/jnci/djv036PGP000001
PGS developed 3 - PGS evaluated 3
Du Z et al. (2021) - J Natl Cancer InstPMID:33769540doi:10.1093/jnci/djab050PGP000179
PGS developed 3 - PGS evaluated 6
Li S et al. (2022) - Cancers (Basel)PMID:35681745doi:10.3390/cancers14112767PGP000351
PGS developed 0 - PGS evaluated 3
Spaeth EL et al. (2023) - Cancer Prev Res (Phila)PMID:36862830doi:10.1158/1940-6207.capr-22-0460PGP000455
PGS developed 0 - PGS evaluated 2
Name: ldpred2.CV.GCST004988.Breast_cancerNumber of Variants: 1,041,298Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: pt_clump.auto.GCST004988.Breast_cancerNumber of Variants: 209Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: ldpred2.auto.GCST004988.Breast_cancerNumber of Variants: 1,041,298Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Name: UKBB_EnsPGS.GCST004988.Breast_cancerNumber of Variants: 1,133,268Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305
Shieh Y et al. (2016) - Breast Cancer Res TreatPMID:27565998doi:10.1007/s10549-016-3953-2PGP000018
PGS developed 2 - PGS evaluated 2
Shieh Y et al. (2020) - J Natl Cancer InstPMID:31553449doi:10.1093/jnci/djz174PGP000094
PGS developed 1 - PGS evaluated 1
Mars N et al. (2020) - Nat CommunPMID:33318493doi:10.1038/s41467-020-19966-5PGP000102
PGS developed 1 - PGS evaluated 3
Luoh SW et al. (2023) - Health EquityPMID:37284538doi:10.1089/heq.2023.0011PGP000537
PGS developed 0 - PGS evaluated 1
Ho WK et al. (2020) - Nat CommunPMID:32737321doi:10.1038/s41467-020-17680-wPGP000112
PGS developed 4 - PGS evaluated 4
Name: pt_clump_nested.CV.GCST004988.Breast_cancerNumber of Variants: 982Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma EFO_0000305