Traits

Traits linked to BRCA2

BRCA2 DNA repair associated

The Human Phenotype Ontology links 212 traits to BRCA2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Glioblastoma multiforme	Heel vaak (80–99%)
Anxiety	Vaak (30–79%)
Attention deficit	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Depression	Vaak (30–79%)
Epilepsy	Vaak (30–79%)
Global developmental delay	Vaak (30–79%)
Intellectual disability	Vaak (30–79%)
Irritability	Vaak (30–79%)
Migraine	Vaak (30–79%)
Rise in pressure inside skull	Vaak (30–79%)
Abnormal gait	Soms (5–29%)
Abnormal pyramidal sign	Soms (5–29%)
Abnormal shape of nervous system	Soms (5–29%)
Abnormal speech pattern	Soms (5–29%)
Astrocytoma	Soms (5–29%)
Benign neoplasm of the central nervous system	Soms (5–29%)
Cancer of early nerve cells	Soms (5–29%)
Cranial nerve paralysis	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Disorder of involuntary muscle movements	Soms (5–29%)
Disturbed sensory perception	Soms (5–29%)
Dysgraphia	Soms (5–29%)
Hallucinations	Soms (5–29%)
Increased reflexes	Soms (5–29%)
Loss of developmental milestones	Soms (5–29%)
Medulloblastoma	Soms (5–29%)
Memory impairment	Soms (5–29%)
Paralysis or weakness of one side of body	Soms (5–29%)
Pins and needles feeling	Soms (5–29%)
Split spine	Soms (5–29%)
Too much cerebrospinal fluid in the brain	Soms (5–29%)
Ventriculomegaly	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Pancreatic adenocarcinoma	Altijd
Abdominal mass	Heel vaak (80–99%)
Abdominal pain	Heel vaak (80–99%)
Anorexia	Heel vaak (80–99%)
Biliary tract neoplasm	Heel vaak (80–99%)
Constipation	Heel vaak (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Heel vaak (80–99%)
Jaundice	Heel vaak (80–99%)
Malabsorption	Heel vaak (80–99%)
Poor appetite	Heel vaak (80–99%)
Primary peritoneal carcinoma	Heel vaak (80–99%)
Duplication of renal pelvis	Vaak (30–79%)
Extrahepatic cholestasis	Vaak (30–79%)
Functional intestinal obstruction	Vaak (30–79%)
Intestinal pseudo-obstruction	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Rectal tumor	Vaak (30–79%)
Abnormal connection between trachea and esophagus	Soms (5–29%)
Abnormality of the liver	Soms (5–29%)
Absent anus	Soms (5–29%)
Cancer of the pancreas	Soms (5–29%)
Colon cancer	Soms (5–29%)
Colon tumor	Soms (5–29%)
Duodenal stenosis	Soms (5–29%)
Enlarged colon lacking nerve cells	Soms (5–29%)
Hepatocellular carcinoma	Soms (5–29%)
Intermittent diarrhea	Soms (5–29%)
Liver cancer	Soms (5–29%)
Meckel diverticulum	Soms (5–29%)
Peritoneal abscess	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Stomach cancer	Zelden (1–4%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormal fallopian tube morphology	Heel vaak (80–99%)
Nephroblastoma	Heel vaak (80–99%)
Ovarian cancer	Heel vaak (80–99%)
Abnormally shaped kidney	Vaak (30–79%)
Urinary tract abnormalities	Vaak (30–79%)
Abnormal kidney location	Soms (5–29%)
Abnormal localisation of kidneys	Soms (5–29%)
Abnormal preputium morphology	Soms (5–29%)
Abnormal uterus morphology	Soms (5–29%)
Abnormality of the testis	Soms (5–29%)
Abnormality of the uterus	Soms (5–29%)
Absent sperm in semen	Soms (5–29%)
Absent testes	Soms (5–29%)
Absent/small kidney	Soms (5–29%)
Decreased fertility in males	Soms (5–29%)
Frequent urinary tract infections	Soms (5–29%)
Heart shaped uterus	Soms (5–29%)
Horseshoe kidney	Soms (5–29%)
Hydroureter	Soms (5–29%)
Hypospadias	Soms (5–29%)
Ovarian carcinoma	Soms (5–29%)
Prostate cancer	Soms (5–29%)
Renal failure	Soms (5–29%)
Undescended testes	Soms (5–29%)
Urinary tract neoplasm	Soms (5–29%)
Varicocele	Soms (5–29%)
Uterine cancer	Zelden (1–4%)
Kidney cancer	Niet vastgelegd

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Abnormality of the thumb	Heel vaak (80–99%)
Abnormality of the upper limb	Heel vaak (80–99%)
Aplasia/Hypoplasia of the radius	Heel vaak (80–99%)
Abnormal feet structure	Soms (5–29%)
Abnormal morphology of ulna	Soms (5–29%)
Abnormality of the thighbone	Soms (5–29%)
Absent/small fingers	Soms (5–29%)
Asymmetric overgrowth	Soms (5–29%)
Clubbed toes	Soms (5–29%)
Curvature of little finger	Soms (5–29%)
Dropped arches	Soms (5–29%)
Finger syndactyly	Soms (5–29%)
Finger-like thumb	Soms (5–29%)
Fused toes	Soms (5–29%)
Hip dislocation	Soms (5–29%)
Short thumb	Soms (5–29%)
Underdeveloped inner large forearm bone	Soms (5–29%)

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Abnormally small head	Vaak (30–79%)
Almond shaped eyes	Vaak (30–79%)
Short opening between the eyelids	Vaak (30–79%)
Abnormality of the eyelid	Soms (5–29%)
Aplasia/Hypoplasia of the uvula	Soms (5–29%)
Blockage of the rear opening of the nasal cavity	Soms (5–29%)
Cleft palate	Soms (5–29%)
Eye folds	Soms (5–29%)
Facial asymmetry	Soms (5–29%)
Frontal bossing	Soms (5–29%)
High palate	Soms (5–29%)
Little lower jaw	Soms (5–29%)
Long, narrow head	Soms (5–29%)
Sloping forehead	Soms (5–29%)
Upward slanting of the opening between the eyelids	Soms (5–29%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Abnormality of the eye	Soms (5–29%)
Abnormality of vision	Soms (5–29%)
Abnormally small eyeball	Soms (5–29%)
Absent iris	Soms (5–29%)
Absent/small iris	Soms (5–29%)
Amaurosis fugax	Soms (5–29%)
Astigmatism	Soms (5–29%)
Bulging eye	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Drooping upper eyelid	Soms (5–29%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)
Partial loss of field of vision	Soms (5–29%)
Visual impairment	Soms (5–29%)
Wide-set eyes	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Abnormality of blood and blood-forming tissues	Heel vaak (80–99%)
Decreased blood leukocyte number	Heel vaak (80–99%)
Low number of red blood cells or hemoglobin	Heel vaak (80–99%)
Low platelet count	Heel vaak (80–99%)
Pyridoxine-responsive sideroblastic anemia	Heel vaak (80–99%)
Acute myeloid leukemia	Vaak (30–79%)
Gastrointestinal bleeding	Vaak (30–79%)
B Acute Lymphoblastic Leukemia	Soms (5–29%)
Increased red blood cells	Soms (5–29%)
Myelodysplasia	Soms (5–29%)
Reduced von Willebrand factor activity	Soms (5–29%)
T-cell acute lymphoblastic leukemias	Soms (5–29%)
Bone marrow failure	Niet vastgelegd

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Abnormal cardiac septum morphology	Vaak (30–79%)
Swollen lymph nodes	Vaak (30–79%)
Abnormal aortic morphology	Soms (5–29%)
Abnormal aortic valve morphology	Soms (5–29%)
Abnormal carotid artery morphology	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Arteriovenous malformation	Soms (5–29%)
Cardiac diverticulum	Soms (5–29%)
Enlarged and thickened heart muscle	Soms (5–29%)
Enlarged liver and spleen	Soms (5–29%)
High blood pressure	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Clay colored stools	Heel vaak (80–99%)
Bloody urine	Vaak (30–79%)
Abnormality of creatine metabolism	Soms (5–29%)
Diabetes mellitus	Soms (5–29%)
Fever	Soms (5–29%)
High blood calcium levels	Soms (5–29%)
High liver enzymes	Soms (5–29%)
Small amount of blood in urine	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal skin pigmentation	Heel vaak (80–99%)
Irregular hyperpigmentation	Heel vaak (80–99%)
Patchy loss of skin color	Heel vaak (80–99%)
Birthmark	Vaak (30–79%)
Itching	Vaak (30–79%)
Basal cell carcinoma	Soms (5–29%)
Multiple birthmarks	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Back pain	Heel vaak (80–99%)
Low muscle tone	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
Spasticity and rigidity of muscles	Vaak (30–79%)
Flexed joint that cannot be straightened	Soms (5–29%)
Low solidness and mass of the bones	Soms (5–29%)
Skeletal tumor	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Prenatal growth deficiency	Altijd
Short stature	Heel vaak (80–99%)
Weight loss	Heel vaak (80–99%)
Faltering weight	Vaak (30–79%)
Growth delay	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Abnormality of the hypothalamus-pituitary axis	Soms (5–29%)
Decreased activity of gonads	Soms (5–29%)
Neoplasm of the thyroid gland	Soms (5–29%)
Noncancerous tumor in pituitary gland	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Abnormally shaped ears	Soms (5–29%)
Hearing abnormality	Soms (5–29%)
Hearing impairment	Soms (5–29%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Chronic fatigue	Heel vaak (80–99%)
Fatigue	Heel vaak (80–99%)
Malaise	Soms (5–29%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Abnormality of chromosome stability	Heel vaak (80–99%)
Chromosomal breakage induced by crosslinking agents	Niet vastgelegd

Abnormal tissue mass

Trait	Hoe vaak het voorkomt
Abnormal tissue mass	Heel vaak (80–99%)
Cancer of skin pigment cells	Soms (5–29%)

Abnormality of the breast

Trait	Hoe vaak het voorkomt
Breast cancer	Vaak (30–79%)
Breast tumor	Niet vastgelegd

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Lung cancer	Soms (5–29%)
Breathing difficulty	Zelden (1–4%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Low levels of amniotic fluid	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

The Human Phenotype Ontology, release 2026-09-01: the traits linked to BRCA2 and how often each is seen. Find out more at hpo.jax.org.

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