Concepedia

Screening for a <i>BRCA2</i> Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes

Patrícia Maria Abreu Machado, Rita D. Brandão, Branca Cavaco, Joana S. Eugénio, Sandra Bento, Mónica Nave, Paula Rodrigues, Aires Fernandes, Fátima Vaz

Journal of Clinical Oncology · 2007 · 112 citations · 23 references

DOIFull text

Open access

Abstract

c.156_157insAlu is a founder mutation of Portuguese origin and is the most frequent BRCA2 rearrangement described to date.

References

23

The Risk of Cancer Associated with Specific Mutations of<i>BRCA1</i>and<i>BRCA2</i>among Ashkenazi Jews

Jeffery P. Struewing, Patricia Hartge, Sholom Wacholder et al. · New England Journal of Medicine · 1997 · 2.3K citations · Full text

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

, , +20

Cancer Risks in BRCA2 Mutation Carriers

JNCI Journal of the National Cancer Institute · 1999 · 1.5K citations · Full text

Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2

Giovanni Parmigiani, Donald A. Berry, Omar Aguilar · The American Journal of Human Genetics · 1998 · 756 citations

, , +10

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

, , +17