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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal fallopian tube morphology	Very often (80–99%)
Nephroblastoma	Very often (80–99%)
Ovarian cancer	Very often (80–99%)
Abnormally shaped kidney	Often (30–79%)
Urinary tract abnormalities	Often (30–79%)
Abnormal kidney location	Sometimes (5–29%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Abnormal preputium morphology	Sometimes (5–29%)
Abnormal uterus morphology	Sometimes (5–29%)
Abnormality of the testis	Sometimes (5–29%)
Abnormality of the uterus	Sometimes (5–29%)
Absent sperm in semen	Sometimes (5–29%)
Absent testes	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Decreased fertility in males	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Heart shaped uterus	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Ovarian carcinoma	Sometimes (5–29%)
Prostate cancer	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)
Varicocele	Sometimes (5–29%)
Uterine cancer	Rarely (1–4%)
Kidney cancer	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the thumb	Very often (80–99%)
Abnormality of the upper limb	Very often (80–99%)
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Abnormal feet structure	Sometimes (5–29%)
Abnormal morphology of ulna	Sometimes (5–29%)
Abnormality of the thighbone	Sometimes (5–29%)
Absent/small fingers	Sometimes (5–29%)
Asymmetric overgrowth	Sometimes (5–29%)
Clubbed toes	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Short thumb	Sometimes (5–29%)
Underdeveloped inner large forearm bone	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Almond shaped eyes	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Abnormality of the eyelid	Sometimes (5–29%)
Aplasia/Hypoplasia of the uvula	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Absent iris	Sometimes (5–29%)
Absent/small iris	Sometimes (5–29%)
Amaurosis fugax	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Bulging eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of blood and blood-forming tissues	Very often (80–99%)
Decreased blood leukocyte number	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Low platelet count	Very often (80–99%)
Pyridoxine-responsive sideroblastic anemia	Very often (80–99%)
Acute myeloid leukemia	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
B Acute Lymphoblastic Leukemia	Sometimes (5–29%)
Increased red blood cells	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)
Reduced von Willebrand factor activity	Sometimes (5–29%)
T-cell acute lymphoblastic leukemias	Sometimes (5–29%)
Bone marrow failure	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Abnormal aortic morphology	Sometimes (5–29%)
Abnormal aortic valve morphology	Sometimes (5–29%)
Abnormal carotid artery morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Arteriovenous malformation	Sometimes (5–29%)
Cardiac diverticulum	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Enlarged liver and spleen	Sometimes (5–29%)
High blood pressure	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Clay colored stools	Very often (80–99%)
Bloody urine	Often (30–79%)
Abnormality of creatine metabolism	Sometimes (5–29%)
Diabetes mellitus	Sometimes (5–29%)
Fever	Sometimes (5–29%)
High blood calcium levels	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Small amount of blood in urine	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Very often (80–99%)
Irregular hyperpigmentation	Very often (80–99%)
Patchy loss of skin color	Very often (80–99%)
Birthmark	Often (30–79%)
Itching	Often (30–79%)
Basal cell carcinoma	Sometimes (5–29%)
Multiple birthmarks	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Back pain	Very often (80–99%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Low solidness and mass of the bones	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Short stature	Very often (80–99%)
Weight loss	Very often (80–99%)
Faltering weight	Often (30–79%)
Growth delay	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Decreased activity of gonads	Sometimes (5–29%)
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Sometimes (5–29%)
Hearing abnormality	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Very often (80–99%)
Fatigue	Very often (80–99%)
Malaise	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of chromosome stability	Very often (80–99%)
Chromosomal breakage induced by crosslinking agents	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Very often (80–99%)
Cancer of skin pigment cells	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Often (30–79%)
Breast tumor	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lung cancer	Sometimes (5–29%)
Breathing difficulty	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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