Search results for "breast cancer"

All results
60
Scores
20
Traits
20
Publications
20

breast cancer

MONDO_0007254
Other trait
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 178 Show Reported Traits

breast carcinoma

MONDO_0004989
Other trait
A carcinoma that arises from epithelial cells of the breast
Associated PGS 178 Show Reported Traits

estrogen-receptor positive breast cancer

MONDO_0006512
Other trait
A subtype of breast cancer that is estrogen-receptor positive [EFO: 1000649]
Associated PGS 11 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

estrogen-receptor negative breast cancer

MONDO_0006513
Other trait
A subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650]
Associated PGS 19 Show Reported Traits

triple-negative breast carcinoma

MONDO_0005494
Other trait
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 8 Show Reported Traits
Associated PGS 8 Show Reported Traits

luminal B breast carcinoma

MONDO_0021115
Other trait
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
Other trait
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-receptor negative breast cancer

MONDO_0000618
Other trait
Associated PGS 9 Show Reported Traits

HER2 positive breast carcinoma

MONDO_0006244
Other trait
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 A or B

MONDO_0004990
Other trait
Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. [NCIT: C53554] [NCIT: C53555]
Associated PGS 2 Show Reported Traits
Hu J et al. (2024) - JNCI Cancer SpectrPMID:38366150doi:10.1093/jncics/pkae008PGP000596
PGS developed 8 - PGS evaluated 8
Name: breast_cancerNumber of Variants: 1,044,110Publication ID: PGP000596
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Ohta R et al. (2024) - Nat CommunPMID:38811555doi:10.1038/s41467-024-48654-xPGP000546
PGS developed 60 - PGS evaluated 60
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
Lopes Cardozo JMN et al. (2023) - J Clin OncolPMID:36689693doi:10.1200/jco.22.01978PGP000572
PGS developed 0 - PGS evaluated 1
Jermy B et al. (2024) - Nat CommunPMID:38866767doi:10.1038/s41467-024-48938-2PGP000618
PGS developed 18 - PGS evaluated 18
Monti R et al. (2024) - Am J Hum GenetPMID:38908374doi:10.1016/j.ajhg.2024.06.003PGP000517
PGS developed 184 - PGS evaluated 184
Gao C et al. (2021) - J Clin OncolPMID:34101481doi:10.1200/jco.20.01992PGP000612
PGS developed 3 - PGS evaluated 3
Name: breast_cancer_PRSmix_eurNumber of Variants: 3,666,245Publication ID: PGP000604
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: disease.breast_cancer.scoreNumber of Variants: 1,059,939Publication ID: PGP000561
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: meta.breast_cancer.scoreNumber of Variants: 1,059,939Publication ID: PGP000561
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989

breast neoplasm

MONDO_0021100
Other trait
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 178 Show Reported Traits

breast disorder

MONDO_0002657
Other trait
A disease involving the breast.
Associated PGS 178 Show Reported Traits
Maguire S et al. (2021) - J Natl Cancer InstPMID:32785646doi:10.1093/jnci/djaa101PGP000167
PGS developed 0 - PGS evaluated 3

thoracic cancer

MONDO_0003274
Other trait
A primary or metastatic malignant neoplasm affecting the tissues of the thorax. [NCIT: C3576]
Associated PGS 213 Show Reported Traits

neoplasm of thorax

MONDO_0021350
Other trait
A neoplasm (disease) that involves the thoracic segment of trunk. [MONDO: patterns/location]
Associated PGS 213 Show Reported Traits

carcinoma

MONDO_0004993
Other trait
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 485 Show Reported Traits

epithelial neoplasm

MONDO_0005626
Other trait
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 486 Show Reported Traits
A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. [NCIT: C53553]
Associated PGS 34 Show Reported Traits

cancer

MONDO_0004992
Other trait
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 624 Show Reported Traits
Lacaze P et al. (2021) - Cancers (Basel)PMID:34298747doi:10.3390/cancers13143533PGP000247
PGS developed 0 - PGS evaluated 1
Name: breast_cancer_PRSmixPlus_eurNumber of Variants: 3,666,321Publication ID: PGP000604
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: GenoBoost_breast_cancer_0Number of Variants: 140Publication ID: PGP000546
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: GenoBoost_breast_cancer_3Number of Variants: 900Publication ID: PGP000546
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: GenoBoost_breast_cancer_4Number of Variants: 70Publication ID: PGP000546
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: INTERVENE_MegaPRS_breast_cancerNumber of Variants: 872,060Publication ID: PGP000618
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: GenoBoost_breast_cancer_1Number of Variants: 80Publication ID: PGP000546
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: GenoBoost_breast_cancer_2Number of Variants: 90Publication ID: PGP000546
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
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
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
Bolze A et al. (2024) - JAMA OncolPMID:38153744doi:10.1001/jamaoncol.2023.5468PGP000706
PGS developed 0 - PGS evaluated 1
Beck JJ et al. (2024) - Cancers (Basel)PMID:38672660doi:10.3390/cancers16081578PGP000767
PGS developed 0 - PGS evaluated 2
Name: dbslmm.auto.GCST004988.Breast_cancerNumber of Variants: 1,137,459Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: lassosum.auto.GCST004988.Breast_cancerNumber of Variants: 13,086Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: megaprs.auto.GCST004988.Breast_cancerNumber of Variants: 869,407Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: megaprs.CV.GCST004988.Breast_cancerNumber of Variants: 869,407Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: prscs.auto.GCST004988.Breast_cancerNumber of Variants: 1,103,877Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: sbayesr.auto.GCST004988.Breast_cancerNumber of Variants: 950,524Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Mars N et al. (2024) - J Clin OncolPMID:38422475doi:10.1200/jco.23.00295PGP000727
PGS developed 0 - PGS evaluated 1
Name: ldpred2.auto.GCST004988.Breast_cancerNumber of Variants: 1,041,298Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: ldpred2.CV.GCST004988.Breast_cancerNumber of Variants: 1,041,298Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989
Name: UKBB_EnsPGS.GCST004988.Breast_cancerNumber of Variants: 1,133,268Publication ID: PGP000517
Reported trait: Breast cancerMapped trait(s): breast carcinoma MONDO_0004989