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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormal fallopian tube morphology	Svært ofte (80–99 %)
Nephroblastoma	Svært ofte (80–99 %)
Ovarian cancer	Svært ofte (80–99 %)
Abnormally shaped kidney	Ofte (30–79 %)
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal kidney location	Noen ganger (5–29 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Abnormal preputium morphology	Noen ganger (5–29 %)
Abnormal uterus morphology	Noen ganger (5–29 %)
Abnormality of the testis	Noen ganger (5–29 %)
Abnormality of the uterus	Noen ganger (5–29 %)
Absent sperm in semen	Noen ganger (5–29 %)
Absent testes	Noen ganger (5–29 %)
Absent/small kidney	Noen ganger (5–29 %)
Decreased fertility in males	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Heart shaped uterus	Noen ganger (5–29 %)
Horseshoe kidney	Noen ganger (5–29 %)
Hydroureter	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Ovarian carcinoma	Noen ganger (5–29 %)
Prostate cancer	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Urinary tract neoplasm	Noen ganger (5–29 %)
Varicocele	Noen ganger (5–29 %)
Uterine cancer	Sjelden (1–4%)
Kidney cancer	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of the thumb	Svært ofte (80–99 %)
Abnormality of the upper limb	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the radius	Svært ofte (80–99 %)
Abnormal feet structure	Noen ganger (5–29 %)
Abnormal morphology of ulna	Noen ganger (5–29 %)
Abnormality of the thighbone	Noen ganger (5–29 %)
Absent/small fingers	Noen ganger (5–29 %)
Asymmetric overgrowth	Noen ganger (5–29 %)
Clubbed toes	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Finger-like thumb	Noen ganger (5–29 %)
Fused toes	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Short thumb	Noen ganger (5–29 %)
Underdeveloped inner large forearm bone	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Ofte (30–79 %)
Almond shaped eyes	Ofte (30–79 %)
Short opening between the eyelids	Ofte (30–79 %)
Abnormality of the eyelid	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the uvula	Noen ganger (5–29 %)
Blockage of the rear opening of the nasal cavity	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Eye folds	Noen ganger (5–29 %)
Facial asymmetry	Noen ganger (5–29 %)
Frontal bossing	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Long, narrow head	Noen ganger (5–29 %)
Sloping forehead	Noen ganger (5–29 %)
Upward slanting of the opening between the eyelids	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Noen ganger (5–29 %)
Abnormality of vision	Noen ganger (5–29 %)
Abnormally small eyeball	Noen ganger (5–29 %)
Absent iris	Noen ganger (5–29 %)
Absent/small iris	Noen ganger (5–29 %)
Amaurosis fugax	Noen ganger (5–29 %)
Astigmatism	Noen ganger (5–29 %)
Bulging eye	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Partial loss of field of vision	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Abnormality of blood and blood-forming tissues	Svært ofte (80–99 %)
Decreased blood leukocyte number	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Svært ofte (80–99 %)
Low platelet count	Svært ofte (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Svært ofte (80–99 %)
Acute myeloid leukemia	Ofte (30–79 %)
Gastrointestinal bleeding	Ofte (30–79 %)
B Acute Lymphoblastic Leukemia	Noen ganger (5–29 %)
Increased red blood cells	Noen ganger (5–29 %)
Myelodysplasia	Noen ganger (5–29 %)
Reduced von Willebrand factor activity	Noen ganger (5–29 %)
T-cell acute lymphoblastic leukemias	Noen ganger (5–29 %)
Bone marrow failure	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiac septum morphology	Ofte (30–79 %)
Swollen lymph nodes	Ofte (30–79 %)
Abnormal aortic morphology	Noen ganger (5–29 %)
Abnormal aortic valve morphology	Noen ganger (5–29 %)
Abnormal carotid artery morphology	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Arteriovenous malformation	Noen ganger (5–29 %)
Cardiac diverticulum	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Enlarged liver and spleen	Noen ganger (5–29 %)
High blood pressure	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
Tetralogy of Fallot	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Clay colored stools	Svært ofte (80–99 %)
Bloody urine	Ofte (30–79 %)
Abnormality of creatine metabolism	Noen ganger (5–29 %)
Diabetes mellitus	Noen ganger (5–29 %)
Fever	Noen ganger (5–29 %)
High blood calcium levels	Noen ganger (5–29 %)
High liver enzymes	Noen ganger (5–29 %)
Small amount of blood in urine	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Abnormal skin pigmentation	Svært ofte (80–99 %)
Irregular hyperpigmentation	Svært ofte (80–99 %)
Patchy loss of skin color	Svært ofte (80–99 %)
Birthmark	Ofte (30–79 %)
Itching	Ofte (30–79 %)
Basal cell carcinoma	Noen ganger (5–29 %)
Multiple birthmarks	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Back pain	Svært ofte (80–99 %)
Low muscle tone	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Flexed joint that cannot be straightened	Noen ganger (5–29 %)
Low solidness and mass of the bones	Noen ganger (5–29 %)
Skeletal tumor	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Prenatal growth deficiency	Alltid
Short stature	Svært ofte (80–99 %)
Weight loss	Svært ofte (80–99 %)
Faltering weight	Ofte (30–79 %)
Growth delay	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Decreased activity of gonads	Noen ganger (5–29 %)
Neoplasm of the thyroid gland	Noen ganger (5–29 %)
Noncancerous tumor in pituitary gland	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Abnormally shaped ears	Noen ganger (5–29 %)
Hearing abnormality	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chronic fatigue	Svært ofte (80–99 %)
Fatigue	Svært ofte (80–99 %)
Malaise	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Abnormality of chromosome stability	Svært ofte (80–99 %)
Chromosomal breakage induced by crosslinking agents	Ikke registrert

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Svært ofte (80–99 %)
Cancer of skin pigment cells	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Breast cancer	Ofte (30–79 %)
Breast tumor	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Lung cancer	Noen ganger (5–29 %)
Breathing difficulty	Sjelden (1–4%)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Low levels of amniotic fluid	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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