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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Abnormal fallopian tube morphology	Molto spesso (80–99%)
Nephroblastoma	Molto spesso (80–99%)
Ovarian cancer	Molto spesso (80–99%)
Abnormally shaped kidney	Spesso (30–79%)
Urinary tract abnormalities	Spesso (30–79%)
Abnormal kidney location	A volte (5–29%)
Abnormal localisation of kidneys	A volte (5–29%)
Abnormal preputium morphology	A volte (5–29%)
Abnormal uterus morphology	A volte (5–29%)
Abnormality of the testis	A volte (5–29%)
Abnormality of the uterus	A volte (5–29%)
Absent sperm in semen	A volte (5–29%)
Absent testes	A volte (5–29%)
Absent/small kidney	A volte (5–29%)
Decreased fertility in males	A volte (5–29%)
Frequent urinary tract infections	A volte (5–29%)
Heart shaped uterus	A volte (5–29%)
Horseshoe kidney	A volte (5–29%)
Hydroureter	A volte (5–29%)
Hypospadias	A volte (5–29%)
Ovarian carcinoma	A volte (5–29%)
Prostate cancer	A volte (5–29%)
Renal failure	A volte (5–29%)
Undescended testes	A volte (5–29%)
Urinary tract neoplasm	A volte (5–29%)
Varicocele	A volte (5–29%)
Uterine cancer	Raramente (1–4%)
Kidney cancer	Non registrato

Abnormality of limbs

Trait	Frequenza di osservazione
Abnormality of the thumb	Molto spesso (80–99%)
Abnormality of the upper limb	Molto spesso (80–99%)
Aplasia/Hypoplasia of the radius	Molto spesso (80–99%)
Abnormal feet structure	A volte (5–29%)
Abnormal morphology of ulna	A volte (5–29%)
Abnormality of the thighbone	A volte (5–29%)
Absent/small fingers	A volte (5–29%)
Asymmetric overgrowth	A volte (5–29%)
Clubbed toes	A volte (5–29%)
Curvature of little finger	A volte (5–29%)
Dropped arches	A volte (5–29%)
Finger syndactyly	A volte (5–29%)
Finger-like thumb	A volte (5–29%)
Fused toes	A volte (5–29%)
Hip dislocation	A volte (5–29%)
Short thumb	A volte (5–29%)
Underdeveloped inner large forearm bone	A volte (5–29%)

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of blood and blood-forming tissues

Trait	Frequenza di osservazione
Abnormality of blood and blood-forming tissues	Molto spesso (80–99%)
Decreased blood leukocyte number	Molto spesso (80–99%)
Low number of red blood cells or hemoglobin	Molto spesso (80–99%)
Low platelet count	Molto spesso (80–99%)
Pyridoxine-responsive sideroblastic anemia	Molto spesso (80–99%)
Acute myeloid leukemia	Spesso (30–79%)
Gastrointestinal bleeding	Spesso (30–79%)
B Acute Lymphoblastic Leukemia	A volte (5–29%)
Increased red blood cells	A volte (5–29%)
Myelodysplasia	A volte (5–29%)
Reduced von Willebrand factor activity	A volte (5–29%)
T-cell acute lymphoblastic leukemias	A volte (5–29%)
Bone marrow failure	Non registrato

Abnormality of the cardiovascular system

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

Laboratory abnormality

Trait	Frequenza di osservazione
Clay colored stools	Molto spesso (80–99%)
Bloody urine	Spesso (30–79%)
Abnormality of creatine metabolism	A volte (5–29%)
Diabetes mellitus	A volte (5–29%)
Fever	A volte (5–29%)
High blood calcium levels	A volte (5–29%)
High liver enzymes	A volte (5–29%)
Small amount of blood in urine	A volte (5–29%)

Abnormality of the integument

Trait	Frequenza di osservazione
Abnormal skin pigmentation	Molto spesso (80–99%)
Irregular hyperpigmentation	Molto spesso (80–99%)
Patchy loss of skin color	Molto spesso (80–99%)
Birthmark	Spesso (30–79%)
Itching	Spesso (30–79%)
Basal cell carcinoma	A volte (5–29%)
Multiple birthmarks	A volte (5–29%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Back pain	Molto spesso (80–99%)
Low muscle tone	Spesso (30–79%)
Scoliosis	Spesso (30–79%)
Spasticity and rigidity of muscles	Spesso (30–79%)
Flexed joint that cannot be straightened	A volte (5–29%)
Low solidness and mass of the bones	A volte (5–29%)
Skeletal tumor	A volte (5–29%)

Growth abnormality

Trait	Frequenza di osservazione
Prenatal growth deficiency	Sempre
Short stature	Molto spesso (80–99%)
Weight loss	Molto spesso (80–99%)
Faltering weight	Spesso (30–79%)
Growth delay	A volte (5–29%)

Abnormality of the endocrine system

Trait	Frequenza di osservazione
Abnormality of the hypothalamus-pituitary axis	A volte (5–29%)
Decreased activity of gonads	A volte (5–29%)
Neoplasm of the thyroid gland	A volte (5–29%)
Noncancerous tumor in pituitary gland	A volte (5–29%)

Abnormality of the ear

Trait	Frequenza di osservazione
Abnormally shaped ears	A volte (5–29%)
Hearing abnormality	A volte (5–29%)
Hearing impairment	A volte (5–29%)

Constitutional symptom

Trait	Frequenza di osservazione
Chronic fatigue	Molto spesso (80–99%)
Fatigue	Molto spesso (80–99%)
Malaise	A volte (5–29%)

Abnormal cellular phenotype

Trait	Frequenza di osservazione
Abnormality of chromosome stability	Molto spesso (80–99%)
Chromosomal breakage induced by crosslinking agents	Non registrato

Abnormal tissue mass

Trait	Frequenza di osservazione
Abnormal tissue mass	Molto spesso (80–99%)
Cancer of skin pigment cells	A volte (5–29%)

Abnormality of the breast

Trait	Frequenza di osservazione
Breast cancer	Spesso (30–79%)
Breast tumor	Non registrato

Abnormality of the respiratory system

Trait	Frequenza di osservazione
Lung cancer	A volte (5–29%)
Breathing difficulty	Raramente (1–4%)

Abnormality of prenatal development or birth

Trait	Frequenza di osservazione
Low levels of amniotic fluid	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

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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