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

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Abnormal fallopian tube morphology	Çok sık (%80–99)
Nephroblastoma	Çok sık (%80–99)
Ovarian cancer	Çok sık (%80–99)
Abnormally shaped kidney	Sık (%30–79)
Urinary tract abnormalities	Sık (%30–79)
Abnormal kidney location	Bazen (%5–29)
Abnormal localisation of kidneys	Bazen (%5–29)
Abnormal preputium morphology	Bazen (%5–29)
Abnormal uterus morphology	Bazen (%5–29)
Abnormality of the testis	Bazen (%5–29)
Abnormality of the uterus	Bazen (%5–29)
Absent sperm in semen	Bazen (%5–29)
Absent testes	Bazen (%5–29)
Absent/small kidney	Bazen (%5–29)
Decreased fertility in males	Bazen (%5–29)
Frequent urinary tract infections	Bazen (%5–29)
Heart shaped uterus	Bazen (%5–29)
Horseshoe kidney	Bazen (%5–29)
Hydroureter	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Ovarian carcinoma	Bazen (%5–29)
Prostate cancer	Bazen (%5–29)
Renal failure	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Urinary tract neoplasm	Bazen (%5–29)
Varicocele	Bazen (%5–29)
Uterine cancer	Seyrek (%1–4)
Kidney cancer	Kaydedilmedi

Abnormality of limbs

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Abnormality of blood and blood-forming tissues	Çok sık (%80–99)
Decreased blood leukocyte number	Çok sık (%80–99)
Low number of red blood cells or hemoglobin	Çok sık (%80–99)
Low platelet count	Çok sık (%80–99)
Pyridoxine-responsive sideroblastic anemia	Çok sık (%80–99)
Acute myeloid leukemia	Sık (%30–79)
Gastrointestinal bleeding	Sık (%30–79)
B Acute Lymphoblastic Leukemia	Bazen (%5–29)
Increased red blood cells	Bazen (%5–29)
Myelodysplasia	Bazen (%5–29)
Reduced von Willebrand factor activity	Bazen (%5–29)
T-cell acute lymphoblastic leukemias	Bazen (%5–29)
Bone marrow failure	Kaydedilmedi

Abnormality of the cardiovascular system

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

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Clay colored stools	Çok sık (%80–99)
Bloody urine	Sık (%30–79)
Abnormality of creatine metabolism	Bazen (%5–29)
Diabetes mellitus	Bazen (%5–29)
Fever	Bazen (%5–29)
High blood calcium levels	Bazen (%5–29)
High liver enzymes	Bazen (%5–29)
Small amount of blood in urine	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Abnormal skin pigmentation	Çok sık (%80–99)
Irregular hyperpigmentation	Çok sık (%80–99)
Patchy loss of skin color	Çok sık (%80–99)
Birthmark	Sık (%30–79)
Itching	Sık (%30–79)
Basal cell carcinoma	Bazen (%5–29)
Multiple birthmarks	Bazen (%5–29)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Back pain	Çok sık (%80–99)
Low muscle tone	Sık (%30–79)
Scoliosis	Sık (%30–79)
Spasticity and rigidity of muscles	Sık (%30–79)
Flexed joint that cannot be straightened	Bazen (%5–29)
Low solidness and mass of the bones	Bazen (%5–29)
Skeletal tumor	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Prenatal growth deficiency	Her zaman
Short stature	Çok sık (%80–99)
Weight loss	Çok sık (%80–99)
Faltering weight	Sık (%30–79)
Growth delay	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Abnormality of the hypothalamus-pituitary axis	Bazen (%5–29)
Decreased activity of gonads	Bazen (%5–29)
Neoplasm of the thyroid gland	Bazen (%5–29)
Noncancerous tumor in pituitary gland	Bazen (%5–29)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Abnormally shaped ears	Bazen (%5–29)
Hearing abnormality	Bazen (%5–29)
Hearing impairment	Bazen (%5–29)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Chronic fatigue	Çok sık (%80–99)
Fatigue	Çok sık (%80–99)
Malaise	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Abnormality of chromosome stability	Çok sık (%80–99)
Chromosomal breakage induced by crosslinking agents	Kaydedilmedi

Abnormal tissue mass

Trait	Ne sıklıkla görüldüğü
Abnormal tissue mass	Çok sık (%80–99)
Cancer of skin pigment cells	Bazen (%5–29)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Breast cancer	Sık (%30–79)
Breast tumor	Kaydedilmedi

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Lung cancer	Bazen (%5–29)
Breathing difficulty	Seyrek (%1–4)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
Low levels of amniotic fluid	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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