Gene Information

BRCA2

BRCA2 DNA repair associated [Source:HGNC Symbol;Acc:HGNC:1101]

protein_codingChromosome 13ENSG00000139618

Overview

BRCA2 variants are associated with 10 diseases including familial colorectal cancer type X and familial pancreatic carcinoma and 8 others, with 15 documented clinical phenotypes.

Associated Diseases

The BRCA2 gene is associated with 10 medical conditions, including:

familial colorectal cancer type X

MONDO:0018604

familial pancreatic carcinoma

MONDO:0015278

Fanconi anemia

MONDO:0019391

chordoma

MONDO:0008978

kidney Wilms tumor

MONDO:0019004

hereditary breast ovarian cancer syndrome

MONDO:0003582

cholangiocarcinoma

MONDO:0019087

prostate cancer, hereditary

MONDO:0700275

Fanconi anemia complementation group D1

MONDO:0011584

hereditary breast carcinoma

MONDO:0016419

Clinical Phenotypes

Research has identified 15 phenotypic features associated with BRCA2 variants:

Typified by somatic mosaicism

HP:0001442

Autosomal dominant inheritance

HP:0000006

Autosomal recessive inheritance

HP:0000007

Short stature

HP:0004322

Failure to thrive

HP:0001508

Cafe-au-lait spot

HP:0000957

Acute myeloid leukemia

HP:0004808

T-cell acute lymphoblastic leukemias

HP:0006727

Microcephaly

HP:0000252

Chromosomal breakage induced by crosslinking agents

HP:0003221

Short thumb

HP:0009778

Anal atresia

HP:0002023

Bone marrow hypocellularity

HP:0005528

Nephroblastoma

HP:0002667

Intrauterine growth retardation

HP:0001511

ClinVar Variants

ClinVar contains 10 variants associated with BRCA2. Below are some notable variants:

NM_000059.4(BRCA2):c.4364A>G (p.Glu1455Gly)

Uncertain significance

VCV004527673