Author's response to reviews Title:Family-specific, novel, deleterious germline variants provide a rich source to identify genetic predispositions for BRCAx familial breast cancer Authors:

Whole exome sequencing of germline DNA from familial non-BRCA1/2 breast cancer cases with a homogeneous tumour profile

Chapter 5 Whole exome sequencing of germline DNA from familial non-BRCA1/2 breast cancer cases with a homogeneous tumour profile 110 Abstract Introduction A large proportion of familial breast cancer susceptibility is still unexplained. Inherited germline mutations in the high-risk BRCA1, BRCA2, and PALB2 genes account for approximately 10 to 20 percent of familial breast cancer risk. The failu...

Author's response to reviews Title: Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age Authors:

Title: Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Author's response to reviews Title: No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p. Authors:

Clinical management of women in BRCAX families: issues and controversies

The role of the familial cancer clinic (FCC) is to provide a cancer risk assessment and appropriate cancer risk management advice, but there are certain groups of patients for whom there are no standard risk management guidelines. One such group is women with a strong family history of breast cancer but BRCA genetic testing has not found a germline mutation. As a family history of breast cancer...

Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

A large number of rare sequence variants of unknown clinical significance have been identified in the breast cancer susceptibility genes, BRCA1 and BRCA2. Laboratory-based methods that can distinguish between carriers of pathogenic mutations and non-carriers are likely to have utility for the classification of these sequence variants. To identify predictors of pathogenic mutation status in fami...