A somatic truncating mutation in BRCA2 in a sporadic breast tumor

Journal Article · Tue Oct 01 04:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:476768

Weber, B H.F.; Brohm, M; Stec, I ^[1]

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1. Universitaet Wuerzburg (Germany); and others

Recently, a second susceptibility gene for hereditary breast and ovarian cancer, BRCA2, was cloned. The subsequent identification of heterozygous germ-line mutations confirmed its role as a predisposing factor in a subset of familial breast and ovarian cancer families. The possible involvement of BRCA2 in the sporadic forms of breast and ovarian tumors was addressed in three recent reports analyzing the gene for somatic mutations in 212 primary breast cancers and SS ovarian cancers. Although several alterations were identified, all except two changes were shown to represent germ-line mutations. Moreover, the two somatic BRCA2 alterations were found to be missense mutations resulting in a Asp309S-Glu change in one case and in a His2415Asn change in the other. Given the questionable effect of missense mutations on protein function, the role of BRCA2 in the carcinogenesis of sporadic breast tumors remains unclear. 10 refs., 1 fig.

• OSTI ID: 476768
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
BIOLOGICAL MARKERS
DNA-CLONING
GENES
HEREDITARY DISEASES
MAMMARY GLANDS
NEOPLASMS
NUCLEOTIDES
OVARIES
PATIENTS
SOMATIC MUTATIONS
SPONTANEOUS MUTATIONS
STATISTICS