Traits

Traits linked to BRCA1

BRCA1 DNA repair associated

The Human Phenotype Ontology links 159 traits to BRCA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	Frequenza di osservazione
Pancreatic adenocarcinoma	Sempre
Abdominal bloating	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%)
Nausea and vomiting	Molto spesso (80–99%)
Peritonitis	Molto spesso (80–99%)
Poor appetite	Molto spesso (80–99%)
Primary peritoneal carcinoma	Molto spesso (80–99%)
Extrahepatic cholestasis	Spesso (30–79%)
Functional intestinal obstruction	Spesso (30–79%)
Intestinal pseudo-obstruction	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%)
Duodenal stenosis	A volte (5–29%)
Enlarged colon lacking nerve cells	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%)

Abnormality of head or neck

Trait	Frequenza di osservazione
Abnormally small head	Sempre
Coarse facial features	Sempre
Low frontal hairline	Sempre
Prominent nasal bridge	Sempre
Underdeveloped tissue around nostril	Sempre
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%)
Bad bite	Non registrato
Full upper lip	Non registrato
Increased size of tooth	Non registrato
Long eyelashes	Non registrato
Narrow opening between the eyelids	Non registrato
Narrow palate	Non registrato
Nasal tip, upturned	Non registrato

Abnormality of the genitourinary system

Trait	Frequenza di osservazione
Ovarian carcinoma	Sempre
Abnormal fallopian tube morphology	Molto spesso (80–99%)
Ovarian cancer	Molto spesso (80–99%)
Abnormally shaped kidney	Spesso (30–79%)
Urinary tract abnormalities	Spesso (30–79%)
Abnormal localisation of kidneys	A volte (5–29%)
Abnormal preputium 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%)
Hydroureter	A volte (5–29%)
Hypospadias	A volte (5–29%)
Prostate cancer	A volte (5–29%)
Renal failure	A volte (5–29%)
Undescended testes	A volte (5–29%)

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%)
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%)
Underdeveloped inner large forearm bone	A volte (5–29%)
Attachment of thumb close to wrist	Raramente (1–4%)
Curvature of digit	Non registrato

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/small iris	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%)
Visual impairment	A volte (5–29%)
Wide-set eyes	A volte (5–29%)

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%)
Enlarged and thickened heart muscle	A volte (5–29%)
Enlarged liver and spleen	A volte (5–29%)
Patent ductus arteriosus	A volte (5–29%)
Tetralogy of Fallot	A volte (5–29%)

Abnormality of the nervous system

Trait	Frequenza di osservazione
Global developmental delay	Sempre
Intellectual disability	Spesso (30–79%)
Abnormal shape of nervous system	A volte (5–29%)
Cranial nerve paralysis	A volte (5–29%)
Increased reflexes	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%)
Delayed speech and language development	Non registrato

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%)
Myelodysplasia	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%)
Itching	Spesso (30–79%)
Multiple birthmarks	A volte (5–29%)
Sparse hair	Non registrato

Growth abnormality

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

Laboratory abnormality

Trait	Frequenza di osservazione
Clay colored stools	Molto spesso (80–99%)
Diabetes mellitus	A volte (5–29%)
Fever	A volte (5–29%)
High liver enzymes	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%)

Abnormality of the musculoskeletal system

Trait	Frequenza di osservazione
Back pain	Molto spesso (80–99%)
Scoliosis	Spesso (30–79%)
Low solidness and mass of the bones	A volte (5–29%)

Abnormal cellular phenotype

Trait	Frequenza di osservazione
Abnormality of chromosome stability	Molto spesso (80–99%)
Chromosome breakage	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 endocrine system

Trait	Frequenza di osservazione
Abnormality of the hypothalamus-pituitary axis	A volte (5–29%)
Decreased activity of gonads	A volte (5–29%)

Constitutional symptom

Trait	Frequenza di osservazione
Chronic fatigue	Molto spesso (80–99%)
Fatigue	Spesso (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the breast

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

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 BRCA1 and how often each is seen. Find out more at hpo.jax.org.

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