BRCA2 - BRCA2 DNA repair associated Gene

Also Known as FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 675

About BRCA2

Cytogenetic location: 13q13.1 Genomic coordinates (GRCh38): 13:32,315,508-32,400,268 (from NCBI)

This gene has 15 transcripts (splice variants), 174 orthologues and is associated with 182 phenotypes. Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues.

Summary

Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian Cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast Cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]

BRCA2 Products (5)

mRNA Protein Name
NM_000059.4 NP_000050.3 breast cancer type 2 susceptibility protein isoform 1
NM_001406719.1 NP_001393648.1 breast cancer type 2 susceptibility protein isoform 3
NM_001406720.1 NP_001393649.1 breast cancer type 2 susceptibility protein isoform 2
NM_001406721.1 NP_001393650.1 breast cancer type 2 susceptibility protein isoform 4
NM_001406722.1 NP_001393651.1 breast cancer type 2 susceptibility protein isoform 5
Molecular Function GO Annotation Evidence References Source
enables gamma-tubulin binding IPI
IPI: Inferred from physical interaction
17286961 GOA
enables histone H3 acetyltransferase activity IDA
IDA: Inferred from direct assay
9619837 GOA
enables histone H4 acetyltransferase activity IDA
IDA: Inferred from direct assay
9619837 GOA
NOT enables histone acetyltransferase activity IDA
IDA: Inferred from direct assay
9824164 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
21601571 GOA
enables protease binding IPI
IPI: Inferred from physical interaction
15314155 GOA
enables protein binding IDA
IDA: Inferred from direct assay
9774970 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9560268 GOA
enables single-stranded DNA binding IDA
IDA: Inferred from direct assay
20729832 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to ionizing radiation IMP
IMP: Inferred from mutant phenotype
14636569 GOA
involved in centrosome duplication IMP
IMP: Inferred from mutant phenotype
17286961 GOA
involved in double-strand break repair IMP
IMP: Inferred from mutant phenotype
16845393 GOA
involved in double-strand break repair via homologous recombination IDA
IDA: Inferred from direct assay
20729832 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
21719596 GOA
involved in establishment of protein localization to telomere IDA
IDA: Inferred from direct assay
21076401 GOA
involved in mitotic recombination-dependent replication fork processing IMP
IMP: Inferred from mutant phenotype
21076401 GOA
involved in negative regulation of mammary gland epithelial cell proliferation IDA
IDA: Inferred from direct assay
15930293 GOA
involved in nucleotide-excision repair IMP
IMP: Inferred from mutant phenotype
16845393 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
9126734 GOA
Cellular Component GO Annotation Evidence References Source
part of BRCA2-MAGE-D1 complex IDA
IDA: Inferred from direct assay
15930293 GOA
part of DNA repair complex IPI
IPI: Inferred from physical interaction
19369211 GOA
located in centrosome IDA
IDA: Inferred from direct assay
17286961 GOA
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
21076401 GOA
located in lateral element IDA
IDA: Inferred from direct assay
9774970 GOA
part of nuclear ubiquitin ligase complex IDA
IDA: Inferred from direct assay
14636569 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9560268 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
9774970 GOA
located in secretory granule IDA
IDA: Inferred from direct assay
8589722 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRCA2 Protein Structure

BRCA2

BRCA2: BRCA2 repeat (1002 - 1036)

BRCA2

BRCA2: BRCA2 repeat (1212 - 1246)

BRCA2

BRCA2: BRCA2 repeat (1421 - 1454)

BRCA2

BRCA2: BRCA2 repeat (1517 - 1550)

BRCA2

BRCA2: BRCA2 repeat (1664 - 1696)

BRCA2

BRCA2: BRCA2 repeat (1837 - 1869)

BRCA2

BRCA2: BRCA2 repeat (1972 - 2005)

BRCA2

BRCA2: BRCA2 repeat (2051 - 2084)

BRCA-2_helical

BRCA-2_helical: BRCA2, helical (2479 - 2667)

BRCA-2_OB1

BRCA-2_OB1: BRCA2, oligonucleotide/oligosaccharide-binding, domain 1 (2670 - 2799)

Tower

Tower: Tower (2831 - 2872)

BRCA-2_OB3

BRCA-2_OB3: BRCA2, oligonucleotide/oligosaccharide-binding, domain 3 (3052 - 3190)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3418 a.a.
Protein Preferred Names Protein Names

breast cancer type 2 susceptibility protein

  • BRCA1/BRCA2-containing complex, subunit 2

BRCA2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BRCA2 P51587 PDS5B Homo sapiens Q9NTI5 22293751
Intra
BRCA2 P51587 PDS5B Homo sapiens Q9NTI5
Y2H
22293751
Intra
BRCA2 P51587 PDS5B Homo sapiens Q9NTI5 22293751
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 19369211
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 22293751
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 19609323
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2
IF
24485656
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 24141787
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 22293751
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 30410870
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 30410870
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 19369211
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2 19609323
Intra
BRCA2 P51587 PALB2 Homo sapiens Q86YC2
TAP
19369211
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609-1 17515903
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609-1 17515903
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609-1
GMS
17515903
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609-1 17515903
Intra
BRCA2 P51587 POLH Homo sapiens Q9Y253 24485656
Intra
BRCA2 P51587 POLH Homo sapiens Q9Y253 24485656
Intra
BRCA2 P51587 POLH Homo sapiens Q9Y253 24485656
Intra
BRCA2 P51587 POLH Homo sapiens Q9Y253
IF
24485656
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 22293751
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 12442171
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 15800615
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 22293751
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 21399666
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609
Y2H
17541404
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 20729832
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 17541404
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 21601571
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609
Y2H
10551859
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 10551859
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609
Y2H
9560268
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 18264088
Intra
BRCA2 P51587 RAD51 Homo sapiens Q06609 15800615
Intra
BRCA2 P51587 FANCD2 Homo sapiens Q9BXW9 18212739
Intra
BRCA2 P51587 FANCD2 Homo sapiens Q9BXW9 15115758
Intra
BRCA2 P51587 TP53 Homo sapiens P04637
NMR
20421506
Intra
BRCA2 P51587 TP53 Homo sapiens P04637
ITC
20421506
Intra
BRCA2 P51587 TP53 Homo sapiens P04637 20421506
Intra
BRCA2 P51587 TP53 Homo sapiens P04637 20421506
Intra
BRCA2 P51587 FANCD2 Homo sapiens Q9BXW9-2 18212739
Intra
BRCA2 P51587 HMG20B Homo sapiens Q9P0W2 21399666
Intra
BRCA2 P51587 HMG20B Homo sapiens Q9P0W2 21399666
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896 10373512
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896 24013206
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896 16205630
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896 16205630
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896 24013206
Intra
BRCA2 P51587 SEM1 Homo sapiens P60896
Y2H
22293751
Intra
BRCA2 P51587 DMC1 Homo sapiens Q14565 17541404
Intra
BRCA2 P51587 DMC1 Homo sapiens Q14565 17541404
Intra
BRCA2 P51587 DMC1 Homo sapiens Q14565 20729832
Intra
BRCA2 P51587 DMC1 Homo sapiens Q14565 17541404
Cross: Cross-species interaction Intra: Intraspecies interaction

BRCA2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86790 BRCA2 Antibody (YA6483) WB, FC Human

Related Diseases

Diseases Alias
Fanconi Anemia, Complementation Group D1
  • Fanconi Anemia Complementation Group D1

  • FANCD1

  • Fad1

  • Inherited Cancer-Predisposing Syndrome Due To Biallelic Brca2 Mutations

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Breast-Ovarian Cancer, Familial 2
  • Breast-Ovarian Cancer, Familial, Susceptibility To, 2

  • Breast-Ovarian Cancer, Familial, 2

  • BROVCA2

  • Hboc2

  • Breast Cancer Familial 2

  • Ovarian Cancer Familial 2

  • Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 2

Pancreatic Cancer 2
  • Pancreatic Cancer, Susceptibility To, 2

  • PNCA2

  • Cancer, Pancreatic, Susceptibility To, Type 2

Glioma Susceptibility 3
  • GLM3

  • Glioblastoma 3

  • Glioma 3

  • Glioma, Susceptibility, Type 3

Hereditary Breast Ovarian Cancer Syndrome
  • Hereditary Breast And Ovarian Cancer Syndrome

  • Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

  • Breast And/Or Ovarian Cancer

  • Breast And Ovarian Cancer Syndrome

  • Hboc Syndrome

  • Hereditary Breast And Ovarian Cancer

  • Brca1- Brca2-Associated Hboc

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Prostate Cancer
  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer

Bilateral Breast Cancer
  • Bilateral Breast Carcinoma

Islet Cell Tumor
  • Pancreatic Neuroendocrine Tumor

  • Neuroendocrine Tumor Of Pancreas

  • Pnet

  • Pancreatic Net

  • Pancreatic Endocrine Tumor

  • Well-Differentiated Nen Of Pancreas

  • Well-Differentiated Neuroendocrine Neoplasm Of Pancreas

  • Well-Differentiated Pancreatic Nen

  • Well-Differentiated Pancreatic Neuroendocrine Neoplasm

  • Endocrine Pancreas Cancer

  • Islet Cell Neoplasm

  • Islet Cell Tumour

  • Malignant Pancreatic Endocrine Tumor

  • Malignant Pancreatic Endocrine Tumour

  • Malignant Tumor Of Endocrine Pancreas

  • Malignant Tumour Of Endocrine Pancreas

  • Pancreatic Endocrine Neoplasm

  • Pancreatic Neuroendocrine Neoplasm

  • Adenoma, Islet Cell

  • Well Differentiated Pancreatic Endocrine Tumor

  • Malignant Neoplasm Of Endocrine Pancreas

  • Pancreatic Endocrine Carcinoma

Headache
  • Headache Disorder

Ovarian Cancer 1
  • Ovarian Cancer, Susceptibility To

  • Ovarian Cancer, Susceptibility To, 1

  • OVCAS1

  • Ovarian Cancer

  • Ovarian Carcinoma

  • Malignant Neoplasm Of Ovary

  • Epithelial Ovarian Cancer

Breast-Ovarian Cancer, Familial 1
  • BROVCA1

  • Breast-Ovarian Cancer, Familial, Susceptibility To, 1

  • Breast-Ovarian Cancer, Familial, 1

  • Brca2 Hereditary Breast And Ovarian Cancer Syndrome

  • Hboc1

  • Brca1 Hereditary Breast And Ovarian Cancer Syndrome

  • Familial Susceptibility To Breast-Ovarian Cancer 1

  • Brovca2

  • Familial Susceptibility To Breast-Ovarian Cancer 2

  • Hboc

  • Breast Cancer Familial 1

  • Ovarian Cancer Familial 1

  • Cancer, Breast-Ovarian, Familial, Susceptibility To, Type 1

Chordoma
  • CHDM

  • Notochordoma

  • Notochordal Sarcoma

  • Chordoma, Susceptibility To

  • Chordocarcinoma

  • Chordoepithelioma

Diffuse Midline Glioma, H3 K27m-Mutant
  • Diffuse Intrinsic Pontine Glioma

  • Dipg

  • Infiltrative Brainstem Glioma

Nephrolithiasis
  • Kidney Stones

  • Stone - Kidney/Ureter

  • Kidney Calculi

Tumor Predisposition Syndrome 1
  • TPDS1

  • Tumor Predisposition Syndrome

  • TPDS

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Osseous Heteroplasia, Progressive
  • Progressive Osseous Heteroplasia

  • POH

  • Osteoma Cutis

  • Familial Ectopic Ossification

  • Ectopic Ossification Familial Type

  • Ectopic Ossification

  • Heterotopic Ossification

  • Ectopic Ossification, Familial

  • Cutaneous Ossification

  • Myositis Ossificans Progressiva

  • Osteodermia

  • Osteosis Cutis

  • Ossification Heterotopic

  • Heteroplasia, Osseous, Progressive

  • Fibrodysplasia Ossificans Progressiva

Tracheoesophageal Fistula With Or Without Esophageal Atresia
  • Esophageal Atresia With Or Without Tracheoesophageal Fistula

  • Esophageal Atresia

Fanconi Anemia, Complementation Group A
  • Fanconi Anemia

  • Fanconi Pancytopenia

  • Fanconi Anemia Complementation Group A

  • FANCA

  • Fa

  • Fanconi Panmyelopathy

  • Fanconi'S Anemia

  • Fanconi Anaemia

  • Fanconi'S Anaemia

  • Fanconi Hypoplastic Anemia

  • Estren-Dameshek Variant Of Fanconi Anemia

  • Estren-Dameshek Variant Of Fanconi Pancytopenia

  • Fanconi Anemia Estren-Dameshek Variant

  • Fanconis Anemia

Isolated Growth Hormone Deficiency, Type Ia
  • Ighd Ia

  • Primordial Dwarfism

  • Isolated Growth Hormone Deficiency Type Ia

  • Sexual Ateleiotic Dwarfism

  • Pituitary Dwarfism I

  • IGHD1A

  • Illig-Type Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, Type Ia

  • Congenital Ighd Type Ia

  • Congenital Isolated Gh Deficiency Type Ia

  • Congenital Isolated Growth Hormone Deficiency Type Ia

  • Pituitary Dwarfism 1

  • Growth Hormone Deficiency, Isolated, Autosomal Recessive

  • Autosomal Recessive Isolated Growth Hormone Deficiency

  • Isolated Growth Hormone Deficiency Type 1a

  • Congenital Ighd

  • Congenital Isolated Gh Deficiency

  • Congenital Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated Autosomal Recessive

  • Illig Type Growth Hormone Deficiency

  • Non-Acquired Isolated Growth Hormone Deficiency

  • Growth Hormone Deficiency, Isolated, 1a

  • Growth Hormone Deficiency Isolated Autosomal Recessive

  • Dwarfism, Primordial

  • Dwarfism

Esophageal Atresia
  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Bap1 Tumor Predisposition Syndrome
  • Bap1-Related Tumor Predisposition Syndrome

  • Common Syndrome

  • Bap1 Cancer Syndrome

  • Bap1-Tpds

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

  • Tumor Predisposition Syndrome

  • Tumor Susceptibility Linked To Germline Bap1 Mutations

  • Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

  • Tumor Predisposition

Inherited Cancer-Predisposing Syndrome
  • Hereditary Cancer-Predisposing Syndrome

Asthma
  • Chronic Obstructive Asthma

  • Asthma, Diminished Response To Antileukotriene Treatment In

  • Bronchial Hyperreactivity

  • Asthma, Susceptibility To

  • Asthma, Bronchial

  • Asthma, Protection Against

  • Asthma, Nocturnal, Susceptibility To

  • Nocturnal Asthma

  • Asthma-Related Traits

  • Asthma-Related Traits, Susceptibility To

  • Asthma, Nocturnal

  • Chronic Obstructive Asthma With Acute Exacerbation

  • Chronic Obstructive Asthma With Status Asthmaticus

  • Exercise Induced Asthma

  • Exercise-Induced Asthma

  • Bronchial Asthma

  • Asthma, Exercise-Induced

  • Idiosyncratic Asthma

  • Unspecified Asthma With Acute Exacerbation

  • Asthma, Unspecified, With Stated Status Asthmaticus

  • Status Asthmaticus Nos

  • Acute Severe Asthma

  • Acute Severe Bronchial Asthma

  • Status Asthma

  • Status Post Asthmaticus

Rhabdomyosarcoma
Genetic Non-Acquired Premature Ovarian Failure
Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach Carcinoma

  • Gastric Cancer, Somatic

  • Gastric Neoplasm

  • Carcinoma Of Stomach

  • Stomach Neoplasms

  • Malignant Neoplasm Of Stomach

  • Gastric Cancer Risk After H. Pylori Infection

  • Cancer Of The Stomach

  • Adult Stomach Cancer

  • Adult Stomach Carcinoma

  • GASC

  • Gastric Cancer Intestinal

  • Gastric Cancers

  • Gastric Carcinomas

  • Cancer, Gastric

  • Stomach Neoplasm

  • Malignant Neoplasm Of Body Of Stomach

  • Malignant Tumor Of Lesser Curve Of Stomach

  • Gastrocarcinoma Of Unspecified Site

  • Leather Bottle Stomach

  • Carcinoma Of Fundus Of Stomach

  • Cancer Of Fundus Of Stomach

  • Primary Malignant Neoplasm Of Body Of Stomach

  • Cancer Of Body Of Stomach

  • Primary Malignant Neoplasm Of Pyloric Antrum

  • Pyloric Antrum Cancer

  • Malignant Tumour Of Stomach

Cholangiocarcinoma
  • Cholangiocarcinoma, Susceptibility To

  • Extrahepatic Cholangiocarcinoma

  • Intrahepatic Cholangiocarcinoma

  • Chlc

  • Chlc, Susceptibility To

  • Cc

  • Cholangiocarcinoma Of Biliary Tract

  • Cholangiocellular Carcinoma

  • Distal Cholangiocarcinoma

  • Perihilar Cholangiocarcinoma

  • Bile Duct Cancer

  • Cca

  • Adult Primary Cholangiocellular Carcinoma

  • Bile Duct Carcinoma

Body Mass Index Quantitative Trait Locus 11
  • OBESITY

  • Obesity, Susceptibility To

  • Leanness, Inherited

  • Obesity, Susceptibility To, Bmiq11

  • Obesity, Mild, Early-Onset

  • Obesity, Association With

  • Obesity, Early-Onset, Susceptibility To

  • Obesity, Severe

  • Obesity, Severe, And Type Ii Diabetes

  • Obesity, Late-Onset

  • Obesity , Susceptibility To

  • BMIQ11

  • Obesity Bmiq11

  • Obesity, Early-Onset

  • Simple Obesity Nos

  • Excess Fat

  • Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

  • Adiposis

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Hereditary Breast Cancer
  • Familial Breast Cancer

  • Familial Breast Carcinoma

  • Hereditary Breast Carcinoma

Fallopian Tube Carcinoma
  • Fallopian Tube Cancer

  • Cancer Of The Fallopian Tube

  • Carcinoma Of Fallopian Tube

  • Neoplasm Of Fallopian Tube

  • Fallopian Tube Neoplasms

  • Fallopian Tube Ca

  • Fallopian Tube Neoplasm

  • Malignant Neoplasm Of Uterine Tube

  • Malignant Tumor Of Fallopian Tube

  • Malignant Tumour Of Fallopian Tube

  • Tumor Of The Fallopian Tube

  • Tumor, Fallopian Tube, Malignant

  • Malignant Tumor Of Fallopian Tubes

  • Cancer Of Fallopian Tubes

  • Malignant Tubal Tumor

  • Tubal Cancer

  • Malignant Neoplasm Of Fallopian Tube

  • Primary Malignant Neoplasm Of Fallopian Tube

  • Cancer Of The Oviduct

Polyposis Syndrome, Hereditary Mixed, 1
  • HMPS1

  • Colorectal Adenoma And Carcinoma 1

  • Crac1

  • Colorectal Cancer 4

  • Chromosome 15q13-Q14 Duplication Syndrome, 40-Kb

  • Colorectal Cancer, Susceptibility To, 4

  • Hereditary Mixed Polyposis Syndrome 1

  • Polyposis Syndrome, Hereditary Mixed 1

  • CRCS4

  • Susceptibility To Colorectal Cancer On Chromosome 15

  • Polyposis Syndrome, Mixed Hereditary 1

  • Adenomatous Polyps

Hereditary Site-Specific Ovarian Cancer Syndrome
Li-Fraumeni Syndrome
  • Sarcoma Family Syndrome Of Li And Fraumeni

  • Sbla Syndrome

  • LFS

  • Li-Fraumeni Familiar Cancer Susceptibility Syndrome

  • Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

  • Lfs1

  • Li Fraumeni Syndrome

  • Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

  • Lfl

  • Sbla Syndrome Li-Fraumeni-Like Syndrome

  • Li-Fraumeni Syndrome 1

Hepatoblastoma
Fanconi Anemia, Complementation Group D2
  • Fanconi Anemia Complementation Group D2

  • FANCD2

  • Fad2

  • Fa4

  • Fancd

  • Fanconi Pancytopenia Type 4

  • Fanconi Anemia, Complementation Group D

  • Fanconi Pancytopenia, Type 4

  • Facd

  • Fanconi Anemia Complementation Group D

Ocular Cancer
  • Eye Neoplasm

  • Eye Carcinoma

  • Eye Cancer

  • Eye Neoplasms

  • Malignant Eye Neoplasm

  • Neoplasm Of Eye

  • Neoplasm Of Eye Proper

  • Ocular Tumor

  • Carcinoma Of Eye

  • Ocular Carcinoma

  • Malignant Tumor Of Eye

Lynch Syndrome
  • Hereditary Nonpolyposis Colon Cancer

  • Hereditary Nonpolyposis Colorectal Cancer

  • Hereditary Nonpolyposis Colorectal Carcinoma

  • Hereditary Nonpolyposis Colorectal Neoplasms

  • Familial Nonpolyposis Colon Cancer

  • Hnpcc

  • Coca 1

  • Hereditary Defective Mismatch Repair Syndrome

  • Hereditary Non-Polyposis Colon Cancer

  • Hereditary Non-Polyposis Colon Cancer Syndrome

  • Hereditary Non-Polyposis Colorectal Cancer

  • Hereditary Non-Polyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colon Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Cancer Syndrome

  • Hereditary Nonpolyposis Colorectal Neoplasm

  • Hnpcc - Hereditary Nonpolyposis Colon Cancer

  • Cancer Family Syndrome

  • Familial Nonpolyposis Colorectal Cancer

  • Colon Cancer, Familial Nonpolyposis

  • Colorectal Neoplasms, Hereditary Nonpolyposis

  • Cancer, Colorectal, Nonpolyposis, Hereditary

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Female Breast Cancer
  • Female Breast Carcinoma

  • Carcinoma Of Female Breast

  • Mammary Carcinoma Of Female Breast

  • Malignant Neoplasm Of Female Breast

Bloom Syndrome
  • BLM

  • Bs

  • Bls

  • Bloom-Torre-Machacek Syndrome

  • Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

  • Mgrisce1

  • Congenital Telangiectatic Erythema

  • Congenital Telangiectatic Erythema Syndrome

  • Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

  • Bloom'S Syndrome

  • Bsyn

Fanconi Anemia, Complementation Group F
  • Fanconi Anemia Complementation Group F

  • FANCF

Ataxia-Telangiectasia
  • Ataxia Telangiectasia

  • Louis-Bar Syndrome

  • AT

  • At1

  • Ataxia-Telangiectasia Syndrome

  • Ataxia - Telangiectasia Variant

  • Boder-Sedgwick Syndrome

  • Louis Bar Syndrome

  • Cerebello-Oculocutaneous Telangiectasia

  • Immunodeficiency With Ataxia Telangiectasia

  • A-T

  • Ataxia Telangiectasia Syndrome

  • Atm

  • Telangiectasia, Cerebello-Oculocutaneous

  • Ataxia-Telangiectasia Variant

Endometrial Cancer
  • Endometrial Carcinoma

  • Endometrial Neoplasm

  • Malignant Neoplasm Of Endometrium

  • Endometrioid Carcinoma

  • Endometrial Neoplasms

  • Carcinoma, Endometrioid

  • Endometrial Cancer, Familial

  • Endometrial Carcinoma, Somatic

  • Endometrial Cancer, Susceptibility To

  • Endometrial Ca

  • Malignant Endometrial Neoplasm

  • Neoplasm Of Endometrium

  • Primary Malignant Neoplasm Of Endometrium

  • Tumor Of Endometrium

  • Carcinoma Of The Endometrium

  • Endometrioid Carcinoma Of Female Reproductive System

  • ENDMC

  • Carcinoma Endometrioid

  • Endometrial Cancers

  • Cancer, Endometrial

  • Uterine Corpus Cancer

Pancreatic Adenocarcinoma
  • Adenocarcinoma Of The Pancreas

  • Adenocarcinoma Of Pancreas

  • Pancreas Adenocarcinoma

  • Malignant Exocrine Neoplasm

  • Primary Pancreatic Adenocarcinoma

  • Adenocarcinoma Of Islet Cell Of Pancreas

  • Islet Cell Adenocarcinoma Of Unspecified Site

  • Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site

Tetraploidy
  • Tetraploidy Syndrome

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Acinar Cell Carcinoma
  • Acinic Cell Carcinoma

  • Acinic Cell Tumor

  • Carcinoma Acinar Cell

  • Carcinoma, Acinar Cell

  • Acinar Cell Tumor

Ocular Melanoma
  • Intraocular Melanoma

  • Uveal Melanoma

  • Eye Melanoma

  • Melanoma Of Eye

  • Melanoma Of The Uvea

  • Malignant Melanoma Of Eye

Fallopian Tube Disease
  • Fallopian Tube Diseases

Cowden Syndrome
  • Cowden Disease

  • Multiple Hamartoma Syndrome

  • Cowden'S Disease

  • Lhermitte-Duclos Disease

  • Cd

  • Cs

  • Mham

  • Dysplastic Gangliocytoma Of Cerebellum

  • Cowden'S Syndrome

  • Hamartoma Syndrome, Multiple

Sporadic Breast Cancer
  • Sporadic Breast Carcinoma

Adenocarcinoma
  • Adenocarcinomas

  • Adenoacanthoma Of Unspecified Site

  • Adenocarcinoid Of Unspecified Site

  • Adenocarcinoid Tumour Of Unspecified Site

  • Adenocarcinoma And Carcinoid Combined Of Unspecified Site

  • Adenocarcinoma Nos

Peutz-Jeghers Syndrome
  • PJS

  • Polyposis, Hamartomatous Intestinal

  • Polyps-And-Spots Syndrome

  • Lentiginosis, Perioral

  • Periorificial Lentiginosis Syndrome

  • Hamartomatous Intestinal Polyposis

  • Hamartomatous Polyp

  • Colonic Hamartomatous Polyp

  • Gastric Peutz-Jeghers Polyp

  • Peutz Jeghers Colon Polyp

  • Peutz Jeghers Polyp

  • Peutz-Jeghers Polyp Of Small Intestine

  • Peutz-Jeghers Small Bowel Hamartoma

  • Peutz Jeghers Polyposis

  • Intestinal Polyposis-Cutaneous Pigmentation Syndrome

  • Peutz-Jeghers Polyposis

  • Polyposis, Intestinal, Ii

  • Intestinal Hamartomatous Polyposis

  • Peutz-Jeghers Polyp

  • Peutz-Jeghers Polyp Of The Stomach

  • Peutz Jehgers Polyp

  • Peutz-Jeghers Polyps Of Small Bowel

Bile Duct Cancer
  • Bile Duct Carcinoma

  • Extrahepatic Bile Duct Carcinoma

  • Carcinoma Of Extrahepatic Bile Duct

  • Extrahepatic Bile Duct Cancer

  • Bile Duct Neoplasms

  • Bile Duct Tumor

  • Ca Extrahepatic Bile Ducts

  • Malignant Neoplasm Of The Extrahepatic Bile Duct

  • Bile Duct Extrahepatic Carcinoma

  • Malignant Tumor Of Extrahepatic Bile Duct

Breast Carcinoma In Situ
  • Carcinoma In Situ Of Breast

  • Non-Infiltrating Carcinoma Of Breast

  • Breast Cancer In Situ

Cowden Syndrome 1
  • Bannayan-Riley-Ruvalcaba Syndrome

  • Pten Hamartoma Tumor Syndrome

  • Lhermitte-Duclos Disease

  • Bannayan-Zonana Syndrome

  • Phts

  • Riley-Smith Syndrome

  • Bzs

  • Ruvalcaba-Myhre-Smith Syndrome

  • Multiple Hamartoma Syndrome

  • Rmss

  • Brrs

  • Dysplastic Gangliocytoma Of The Cerebellum

  • CWS1

  • Cs

  • Cd

  • Mham

  • Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

  • Macrocephaly Multiple Lipomas And Hemangiomata

  • Bannayan-Ruvalcaba-Riley Syndrome

  • Myhre-Riley-Smith Syndrome

  • LDD

  • Cerebelloparenchymal Disorder Vi

  • Hamartoma Syndrome, Multiple

  • Bbrs

  • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

  • Macrocephaly, Multiple Lipomas, And Hemangiomata

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomas

  • Ruvalcaba -Myhre-Smith Syndrome

  • Ruvalcaba-Myhre Syndrome

  • Cowden Disease

  • Macrocephaly Pseudopapilledema And Multiple Hemangiomata

  • Cerebellar Granule Cell Hypertrophy And Megalencephaly

  • Cpd6

  • Pten Hamartoma Tumor Syndromes

  • Cowden Syndrome, Type 1

Breast Ductal Carcinoma
  • Ductal Breast Carcinoma

  • Duct Carcinoma

  • Carcinoma, Ductal

  • Mammary Ductal Carcinoma

  • Ductal Carcinoma

Dysplastic Nevus Syndrome
  • Familial Atypical Multiple Mole-Melanoma

  • Familial Atypical Multiple Mole Melanoma Syndrome

  • Melanoma-Pancreatic Cancer Syndrome

  • Famm Syndrome

  • B-K Mole Syndrome

  • Famm-Pc Syndrome

  • Fammm Syndrome

  • Familial Atypical Mole Syndrome

  • Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome

  • Familial Dysplastic Nevus Syndrome

  • Familial Atypical Multiple Mole Melanoma

  • Dysplastic Nevus

  • Familial Atypical Mole Melanoma Syndrome

Diffuse Gastric And Lobular Breast Cancer Syndrome
  • Hereditary Diffuse Gastric Cancer

  • HDGC

  • LBC

  • Familial Diffuse Gastric Cancer

  • Fdgc

  • Hereditary Diffuse Gastric Adenocarcinoma

  • Breast Cancer, Lobular

  • Gastric Cancer, Familial Diffuse, And Cleft Lip With Or Without Cleft Palate

  • DGLBC

  • Gastric Cancer, Hereditary Diffuse

  • Gastric Cancer, Familial Diffuse Breast Cancer, Lobular

  • Diffuse Gastric And Lobular Breast Cancer Syndrome With Or Without Cleft Lip And/Or Palate

  • E-Cadherin-Associated Hereditary Gastric Cancer

  • Familial Diffuse Cancer Of Stomach

  • Hereditary Diffuse Cancer Of Stomach

  • Gastric Cancer Familial Diffuse

  • Gastric Cancer Familial Diffuse And Cleft Lip With Or Without Cleft Palate

  • Cancer, Gastric, Hereditary Diffuse

Peritoneum Cancer
  • Peritoneal Neoplasm

  • Cancer Of Peritoneum

  • Malignant Tumor Of Peritoneum

  • Peritoneal Neoplasms

Cancerophobia
  • Cancer Phobia

  • Fear Of Getting Cancer

Lobular Neoplasia
  • Lobular Carcinoma In Situ

  • Lobular Carcinoma In Situ Of Breast

  • Lobular Intraepithelial Neoplasia

  • Non-Infiltrating Lobular Carcinoma

  • Noninfiltrating Lobular Carcinoma Unspecified Site

  • Noninfiltrating Lobular Carcinoma Of Breast

  • Lobular Carcinoma In Situ Unspecified Site

In Situ Carcinoma
  • Carcinoma In Situ

Nosophobia
Pre-Malignant Neoplasm
Breast Disease
  • Breast Diseases

Ovarian Carcinosarcoma
  • Ovarian Malignant Mixed Mullerian Tumor

  • Mmmt Of The Ovary

  • Malignant Mixed Mullerian Tumor Of The Ovary

  • Ovarian Malignant Mixed Epithelial Mesenchymal Tumor

  • Ovarian Malignant Mesodermal Mixed Tumor

  • Ovarian Mmmt

  • Malignant Mixed Müllerian Tumor Of The Ovary

  • Ovarian Malignant Mixed Müllerian Tumor

  • Carcinosarcoma Of Ovary

Synchronous Bilateral Breast Carcinoma
Carcinosarcoma
  • Mixed Tumor, Mullerian

  • Malignant Mixed Mesodermal Tumor

  • Malignant Mixed Mullerian Tumor

  • Mmmt

  • Mixed Tumor, Mesodermal

  • Mesodermal Mixed Tumor

  • Mixed Mesodermal Tumor

  • Mullerian Mixed Tumor

  • Mixed Mullerian Tumor

  • Malignant Mixed Müllerian Tumor

  • Mixed Müllerian Tumor

  • Mixed Tumor Mullerian

  • Mixed Tumor, Not Otherwise Specified

Glioblastoma
  • Glioblastoma Multiforme

  • Gbm

  • Adult Glioblastoma Multiforme

  • Grade Iv Adult Astrocytic Tumor

  • Primary Glioblastoma Multiforme

  • Spongioblastoma Multiforme

  • Adult Glioblastoma

  • Primary Glioblastoma

Breast Lobular Carcinoma
  • Cancer, Breast, Lobular

  • Lobular Breast Carcinoma

Diffuse Gastric Cancer
  • Hereditary Diffuse Gastric Adenocarcinoma

  • Hereditary Diffuse Gastric Cancer

  • Signet Cell Adenocarcinoma

  • Signet Ring Cell Carcinoma

  • Signet Ring Cell Gastric Carcinoma

  • Signet Ring Gastric Carcinoma

  • Fdgc

  • Familial Diffuse Cancer Of Stomach

  • Familial Diffuse Gastric Cancer

  • Gastric Cancer, Familial Diffuse

  • Gastric Cancer, Hereditary Diffuse

  • Hdgc

  • Hereditary Diffuse Cancer Of Stomach

  • Diffuse Gastric Cancer Syndrome

  • Cancer, Gastric, Diffuse

  • Carcinoma, Signet Ring Cell

  • Gastric Signet Ring Carcinoma

Choroid Plexus Cancer
  • Choroid Plexus Carcinoma

  • Choroid Plexus Neoplasms

  • Choroid Plexus Neoplasm

  • Tumor Of Choroid Plexus

  • Tumor Of The Choroid Plexus

  • Choroid Plexus Tumor

  • Choroid Plexus Tumors

  • Anaplastic Choroid Plexus Papilloma

  • Choroid Plexus Papilloma Nos

  • Papilloma Of Choroid Plexus

  • Plexus Choroideus Papilloma

  • Choroid Plexus Papilloma In Fourth Ventricle

  • Plexus Choroideus Papilloma In Fourth Ventricle

Serous Cystadenocarcinoma
  • Serous Adenocarcinoma

  • Cystadenocarcinoma, Serous

  • Serous Carcinoma

  • Cystadenocarcinoma Serous

Ductal Carcinoma In Situ
  • Noninfiltrating Intraductal Carcinoma

Ovarian Disease
  • Ovarian Dysfunction

  • Ovarian Diseases

  • Ovarian Disorders

  • Disorder Of Endocrine Ovary

Papillary Serous Adenocarcinoma
  • Micropapillary Serous Carcinoma

  • Serous Surface Papillary Carcinoma

  • Papillary Serous Carcinoma

  • Papillary Serous Cystadenocarcinoma

Tay-Sachs Disease
  • Hexosaminidase A Deficiency

  • TSD

  • Hexa Deficiency

  • Gm2 Gangliosidosis, Type 1

  • Hexosaminidase Alpha-Subunit Deficiency

  • Gm2-Gangliosidosis, Several Forms

  • Gm2-Gangliosidosis, B, B1, Ab Variant

  • B Variant Gm2 Gangliosidosis

  • Sphingolipidosis, Tay-Sachs

  • Gm2-Gangliosidosis, Type I

  • B Variant Gm2-Gangliosidosis

  • Hex A Pseudodeficiency

  • Hexa Disorders

  • Beta-Hexosaminidase A Deficiency

  • Gm2 Gangliosidosis, Type I

  • Gangliosidosis Gm2 , Type 1

  • Gm2 Gangliosidosis, B, B1 Variant

  • Gm2-Gangliosidosis 1

  • GM2G1

  • Gm2-Gangliosidosis B Variant

  • Tay-Sachs Disease Pseudo-Ab Variant

  • Tay-Sachs Disease Variant B1

  • Gangliosidoses, Gm2

Fanconi Anemia, Complementation Group N
  • Fanconi Anemia Complementation Group N

  • FANCN

Hypertrophy Of Breast
  • Breasts Enlarged

  • Large Breast

  • Hypertrophy Of Breast Nos

  • Hypertrophy Of Male Breast

  • Hypertrophic Breast

  • Excessive Development Of Breast

  • Macromastia

  • Mastoplastia

Ovary Transitional Cell Carcinoma
  • Malignant Ovarian Transitional Cell Neoplasm

  • Ovarian Transitional Cell Cancer

  • Ovarian Transitional Cell Neoplasm

  • Transitional Cell Carcinoma Of Ovary

  • Ovarian Transitional Cell Carcinoma

  • Malignant Ovarian Transitional Cell Tumor

  • Ovarian Transitional Cell Tumor

Endosalpingiosis
Lynch Syndrome I
  • Lynch Syndrome 1

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 1

  • HNPCC1

  • Fcc1

  • Lynch Syndrome Ii

  • Colon Cancer, Familial Nonpolyposis, Type 1

  • Coca1

  • Familial Nonpolyposis Colon Cancer Type 1

  • Hereditary Nonpolyposis Colorectal Cancer Type 1

  • Hereditary Non-Polyposis Colorectal Cancer 1

  • Hereditary Non-Polyposis Colorectal Cancer 3

  • Hnpcc3

  • Lynch Cancer Family Syndrome

  • Lynch Syndrome

  • Lynch Syndrome Type I

  • Lynch Syndrome Type Ii

  • Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1

  • Hereditary Nonpolyposis Colorectal Cancer

  • Colorectal Cancer, Hereditary Nonpolyposis, Type 3

  • Hereditary Non-Polyposis Colon Cancer Type 2

Combined Oxidative Phosphorylation Deficiency 17
  • COXPD17

  • Combined Oxidative Phosphorylation Defect Type 17

  • Combined Oxidative Phosphorylation Deficiency, Type 17

Pancreatic Acinar Cell Adenocarcinoma
  • Pancreatic Acinar Cell Carcinoma

  • Acinar Cell Adenocarcinoma Of The Pancreas

Breast Benign Neoplasm
  • Benign Tumour Of Breast

  • Benign Neoplasm Of Female Breast

Thoracic Benign Neoplasm
  • Benign Neoplasm Of Thorax

Estrogen-Receptor Negative Breast Cancer
Basaloid Lung Carcinoma
  • Basaloid Lung Cancer

Malignant Ovarian Surface Epithelial-Stromal Neoplasm
  • Malignant Ovarian Surface Epithelial-Stromal Tumor

Mismatch Repair Cancer Syndrome
  • Turcot Syndrome

  • Brain Tumor-Polyposis Syndrome 1

  • Btp1 Syndrome

  • Btps1

  • Childhood Cancer Syndrome

  • Cmmr-D Syndrome

  • Cmmrds

  • Constitutional Mismatch Repair Deficiency Syndrome

  • Mmr Deficiency

  • Cancer Syndrome, Mismatch Repair

  • Malignant Childhood Neoplasm

Ovarian Cystadenocarcinoma
  • Cystadenocarcinoma Of Ovary

  • Cystadenocarcinoma Of The Ovary

Premature Menopause
  • Primary Ovarian Insufficiency

  • Premature Ovarian Failure

  • Hypergonadotropic Hypogonadism

  • Premature Ovarian Insufficiency

  • Menopause - Premature

  • Menopause Praecox

  • Menopause Premature

  • Menopause, Premature

  • Female Hypergonadotropic Hypogonadism

  • Hypergonadotrophic Ovarian Failure

  • Primary Female Hypogonadism

  • Pof - [Premature Ovarian Failure]

  • Ovarian Failure

  • Ovarian Secretion Suppression

  • Ovary Hyposecretion

  • Ovary Secretion Deficiency

  • Premature Menopause Nos

Ovary Adenocarcinoma
  • Ovarian Adenocarcinoma

  • Adenocarcinoma Of The Ovary

  • Ovarian Adenoacanthoma

  • Adenocarcinoma Of Ovary

Comedo Carcinoma
  • Comedocarcinoma

  • High Grade Ductal Breast Carcinoma In Situ

Cystadenocarcinoma
Physical Disorder
  • Physical Illness

Female Reproductive Endometrioid Cancer
  • Endometrioid Tumor

  • Endometrioid Neoplasm

  • Female Reproductive Endometrioid Neoplasm

Autosomal Recessive Cerebellar Ataxia
  • Arca

Muir-Torre Syndrome
  • MRTES

  • Keratoacanthoma

  • Muir-Torré Syndrome

  • Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas

  • Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas

  • Multiple Keratoacanthoma, Muir-Torre Type

  • Mts

  • Torre-Muir Syndrome

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Ovary Epithelial Cancer
  • Ovarian Surface Epithelial-Stromal Tumor

  • Epithelial Tumor Of Ovary

Breast Fibroadenoma
  • Fibroadenoma

  • Fibroadenoma Of Breast

  • Juvenile Fibroadenoma Of Breast

  • Cellular Fibroadenoma

  • Complex Fibroadenoma Of Breast

  • Juvenile Fibroadenoma

  • Fibroadenoma Nos

  • Fibroadenoma Unspecified Site

Familial Adenomatous Polyposis 2
  • Mutyh-Related Attenuated Familial Adenomatous Polyposis

  • FAP2

  • Colorectal Adenomatous Polyposis, Autosomal Recessive

  • Adenomas, Multiple Colorectal

  • Mutyh-Associated Polyposis

  • Mutyh-Related Attenuated Familial Polyposis Coli

  • Mutyh-Related Attenuated Fap

  • Adenomas, Multiple Colorectal, Autosomal Recessive

  • Mutyh-Related Afap

  • Adenomas Multiple Colorectal Autosomal Recessive

  • Colorectal Adenomatous Polyposis Autosomal Recessive

  • Adenomatous Polyposis, Familial, Type 2

Ovarian Serous Carcinoma
  • Ovarian Serous Adenocarcinoma

X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
  • Mental Retardation, X-Linked, Syndromic 32

  • Mrxs32

Xeroderma Pigmentosum, Variant Type
  • Xeroderma Pigmentosum

  • XPV

  • Xeroderma Pigmentosum Variant Type

  • Xeroderma Pigmentosum With Normal Dna Repair Rates

  • Photosensitivity With Defective Dna Synthesis

  • Xp

  • De Sanctis-Cacchione Syndrome

  • Desanctis-Cacchione Syndrome

  • Xeroderma Pigmentosa

  • Xerodermic Idiocy

  • Xeroderma Pigmentosum Variant

  • Xp - [Xeroderma Pigmentosum]

  • Atrophoderma Pigmentosum

Neurofibromatosis, Type I
  • Von Recklinghausen Disease

  • Neurofibromatosis 1

  • Neurofibromatosis, Type 1

  • NF1

  • Neurofibromatosis, Peripheral Type

  • Neurofibromatosis Type I

  • Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion

  • Familial Spinal Neurofibromatosis

  • Fsnf

  • Peripheral Neurofibromatosis

  • Von Recklinghausen'S Neurofibromatosis

  • Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion

  • Neurofibromatosis Peripheral Type

  • Von Recklinghausen Syndrome

  • Neurofibromatosis Type 1

  • Von Recklinghausen Neuropathy

  • Nf1 - [Neurofibromatosis Type 1]

  • Recklinghausen Disease

Ovarian Serous Cystadenocarcinoma
  • Serous Cystadenoma

  • Cystadenoma Serous

  • Cystadenoma, Serous

Melanoma
  • Malignant Melanoma

  • Cutaneous Melanoma

  • Naevocarcinoma

  • Malignant Melanomas

Ciliary Dyskinesia, Primary, 5
  • Primary Ciliary Dyskinesia 5

  • CILD5

  • Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

  • Primary Ciliary Dyskinesia 5 Without Situs Inversus

  • Ics5

  • Immotile Cilia Syndrome 5

  • Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

  • Dyskinesia, Ciliary, Primary, Type 5

Aplastic Anemia
  • Aplastic Anemia, Susceptibility To

  • Anemia Aplastic

  • Idiopathic Aplastic Anemia

  • Secondary Aplastic Anemia

  • Idiopathic Bone Marrow Failure

  • Aplastic Anemia Idiopathic

  • AA

  • Anemia, Aplastic

  • Aplastic Anemia, Idiopathic

  • Erythroid Aplasia

  • Aa - [Aplastic Anaemia]

  • Haematopoietic Aplasia

  • Aleukia Haemorrhagica

  • Anaemia Due To Decreased Red Cell Production

  • Aplasia Bone Marrow

  • Aplastic Bone Marrow

  • Hypoplastic Anaemia Nos

  • Myeloid Bone Marrow Aplasia

  • Pancytopenia

  • Panhaematopenia

  • Hypoproliferative Anaemia

  • Medullary Hypoplasia

  • Red Blood Cells Hypoplastic Anaemia

  • Panmyelophthisis

  • Panhemocytopenia

  • Refractive Hypoproliferative Anaemia

  • Toxic Anaemia

  • Toxic Aplastic Anaemia

  • Aplastic Anaemia Due To Toxic Cause

  • Idiopathic Aplastic Anaemia Nos

Nijmegen Breakage Syndrome
  • Berlin Breakage Syndrome

  • NBS

  • Microcephaly, Normal Intelligence And Immunodeficiency

  • Ataxia-Telangiectasia Variant

  • Ataxia-Telangiectasia Variant V1

  • Seemanova Syndrome Ii

  • Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

  • Seemanova Syndrome Type 2

  • At-V1

  • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

  • Immunodeficiency, Microcephaly, And Chromosomal Instability

  • Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

  • Microcephaly Immunodeficiency Lymphoreticuloma

  • Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

  • Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

  • Seemanova Syndrome 2

  • Ataxia-Telangiectasia Variant 1

  • Seemanova Syndrome

  • At V1

  • Ataxia-Telangiectasia, Variant 1

  • Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

  • V-At

  • Ataxia Telangiectasia Variant V1

Melanoma, Cutaneous Malignant 1
  • Familial Melanoma

  • Melanoma, Cutaneous Malignant, Susceptibility To, 1

  • Melanoma, Malignant

  • CMM1

  • Melanoma, Cutaneous Malignant

  • Cmm

  • Familial Atypical Mole-Malignant Melanoma Syndrome

  • Fammm

  • Melanoma, Familial

  • Mlm

  • Dysplastic Nevus Syndrome, Hereditary

  • Dns

  • B-K Mole Syndrome

  • Melanoma, Cutaneous Malignant, 1

  • Malignant Melanoma, Cutaneous

  • Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

  • Dysplastic Nevus Syndrome

  • Cutaneous Melanoma

  • Familial Atypical Mole Melanoma Syndrome

  • Hereditary Melanoma

Estrogen-Receptor Positive Breast Cancer
Uterine Corpus Cancer
  • Corpus Uteri Cancer

  • Malignant Uterine Corpus Neoplasm

Testicular Disease
  • Testicular Dysfunction

  • Testicular Diseases

  • Disorder Of Testis

  • Testis Disorder

  • Testicular Disorders

Basal Cell Nevus Syndrome
  • Nevoid Basal Cell Carcinoma Syndrome

  • Gorlin Syndrome

  • Nbccs

  • BCNS

  • Gorlin-Goltz Syndrome

  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

  • Cerebral Gigantism Jaw Cysts

  • Cramer Niederdellmann Syndrome

  • Gorlin Syndrome Or Gorlin-Goltz Syndrome

  • Naevoid Basal Cell Carcinoma Syndrome

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Adrenal Cortical Carcinoma
  • Adrenocortical Carcinoma

  • Adrenal Cortex Carcinoma

  • Carcinoma Of The Adrenal Cortex

  • Acc

  • Adrenocortical Cancer

  • Carcinoma Adrenocortical

Seckel Syndrome
  • Microcephalic Primordial Dwarfism

  • Bird-Headed Dwarfism

  • Harper'S Syndrome

  • Virchow-Seckel Dwarfism

  • Nanocephalic Dwarfism

  • Sckl

  • Seckel-Type Dwarfism

Deficiency Anemia
  • Anemia

  • Deficiency Anemias

  • Anaemia

Breast Adenocarcinoma
  • Mammary Adenocarcinoma

  • Adenocarcinoma Of Breast

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus BRCA2 VGNC VGNC:60166
Macaca mulatta BRCA2 VGNC VGNC:70279
Rattus norvegicus BRCA2 RGD RGD:2219
Mus musculus BRCA2 MGD MGI:109337
Bos taurus BRCA2 VGNC VGNC:26554
Canis familiaris BRCA2 VGNC VGNC:38517
Others BRCA2 NCBI