Breast cancer risk assessment: use of complete pedigree information and the effect of misspecified ages at diagnosis of affected relatives

Human Genetics
S SchmidtJ Chang-Claude

Abstract

Reliable risk estimates for hereditary breast cancer are important for the genetic counseling of women who have one or more first- and/or second-degree relatives affected by the disease. If no mutation analysis of known high-penetrance breast cancer genes is performed, risk estimation is often based on published reference tables. These tables express a woman's age-specific risk of breast cancer as a function of the ages at diagnosis of one or two affected relatives with different degrees of relationship to the counselee. However, unaffected relatives are not taken into account when these estimates are derived. We report here the extent to which risk estimation is influenced by the number and ages of any unaffected relatives and by the exact genealogical relationship between the proband and affected relative rather than merely the degree. Additionally, we describe the sensitivity of risk estimates when ages at diagnosis of affected relatives are misspecified because of inaccurate information supplied by the counselee. We determined a proband's probability of being a carrier of a highly penetrant breast cancer susceptibility gene, such as BRCA1 or BRCA2, by likelihood calculations that take into account information from the entir...Continue Reading

Citations

May 24, 2007·Familial Cancer·Hassan RoudgariNeva E Haites
Jun 29, 2007·Journal of Genetic Counseling·Vickie L Venne, Heidi A Hamann
Nov 5, 2003·The Journal of Clinical Investigation·Robin L BennettJoan H Marks
Apr 19, 2011·Orvosi hetilap·József Gábor JoóZsolt Nagy
Aug 23, 2000·European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ECP)·H YoonD Tomé
Mar 16, 2001·Breast Cancer Research : BCR·S L Neuhausen
Sep 29, 2004·American Journal of Preventive Medicine·Harvey J MurffSapna Syngal

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