BRCA2

Epidemiology and Etiology:

· Autosomal dominant inheritance

· High penetrance

· BRCA2 gene defects (13q12.3)

· BRCA2 normal function

· Tumour suppressor

· Transcriptional regulation

· Role in DNA repair (Fanconi anemia complex)

· Binds to DNA

· Homologous recombination for repair of double-strand DNA breaks

· No interaction with ER

· BRCA2 mutations

· > 300 mutations identified

· Breast CA

· Risk 60-80%

· Greater risk of male breast cancer than BRCA1

· 50y avg age of onset

· Ovarian CA

· Risk 10-20%

·

Common sites:

· Breast

· Adenocarcinoma

· Ovary

· Carcinoma

· Pancreas

· Carcinoma

· Stomach

· Carcinoma

· Skin

· Melanoma

· Colon

· carcinoma

Gross features:

·

Histologic features:

· Similar to sporadic breast CAs

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

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References:

· Kumar V, Fausto N, Abbas A. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. 7th ed. Saunders; 2004.