"I Don't Want to Be an Ostrich": Managing Mothers' Uncertainty during BRCA1/2 Genetic Counseling.

Families who face genetic disease risk must learn how to grapple with complicated uncertainties about their health and future on a long-term basis. Women who undergo BRCA 1/2 genetic testing describe uncertainty related to personal risk as well as their loved ones', particularly daughters', risk. The genetic counseling setting is a prime opportunity for practitioners to help mothers manage uncertainty in the moment but also once they leave a session.

Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.

Objective: To analyze patients with kidney cancer referred for evaluation at a high-volume genetics service at a comprehensive cancer center and identify factors associated with positive tests for hereditary cancer syndromes.

Methods: A retrospective review of patients referred to the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center was performed, and patients with a personal history of kidney cancer were identified. Patient and disease characteristics were reviewed.

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.

Purpose: This study examines the analytic validity of a software tool designed to provide individuals with risk assessments for colorectal cancer based on personal health and family history information. The software is compatible with the US Surgeon General's My Family Health Portrait (MFHP).

Methods: An algorithm for risk assessment was created using accepted colorectal risk assessment guidelines and programmed into a software tool (MFHP).

Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.

BRCA1/2 large rearrangement (LR) testing has been available to patients since 2006. Three existing models commonly used in cancer genetics clinical and research settings (BRCAPRO, Penn II and Myriad II) have not been assessed for their performance in predicting the presence of BRCA1/2 large genomic rearrangements in patients who do not have mutations detectable by the traditional Sanger sequencing approach. This study sought to determine if there is an optimal pre-test probability "cut off" value, calculated using these models, to optimize detection of large rearrangements (LRs).

Clinical features and management of BRCA1 and BRCA2-associated prostate cancer.

It is thought that over forty percent of an individual's risk of developing prostate cancer (PCa) is related to familial and genetic factors. Although multiple genes have been implicated in the development of PCa, few confer as high a risk as mutations in the genes associated with early-onset breast cancer (BRCA1 and BRCA2). Not only do mutations in BRCA genes increase the risk of PCa, but they have also been related to adverse disease characteristics and outcomes.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Approximately 25 % of mismatch repair (MMR) variants are exonic nucleotide substitutions. Some result in the substitution of one amino acid for another in the protein sequence, so-called missense variants, while others are silent. The interpretation of the effect of missense and silent variants as deleterious or neutral is challenging.

Sources of uncertainty about daughters' breast cancer risk that emerge during genetic counseling consultations.

Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners.