Nine new breast cancer risk genes: Landscape of cancer genes and mutational processes in breast cancer complicated

Nine new breast cancer risk genes: Landscape of cancer genes and mutational processes in breast cancer complicated

paywalled: Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Breast Cancer Res Treat. 2012 Apr 18;

Abstract
The genetic component of breast cancer predisposition remains largely unexplained. Candidate gene case-control resequencing has identified predisposition genes characterised by rare, protein truncating mutations that confer moderate risks of disease. In theory, exome sequencing should yield additional genes of this class. Here, we explore the feasibility and design considerations of this approach. We performed exome sequencing in 50 individuals with familial breast cancer, applying frequency and protein function filters to identify variants most likely to be pathogenic. We identified 867,378 variants that passed the call quality filters of which 1,296 variants passed the frequency and protein truncation filters. The median number of validated, rare, protein truncating variants was 10 in individuals with, and without, mutations in known genes. The functional candidacy of mutated genes was similar in both groups. Without prior knowledge, the known genes would not have been recognisable as breast cancer predisposition genes. Everyone carries multiple rare mutations that are plausibly related to disease. Exome sequencing in common conditions will therefore require intelligent sample and variant prioritisation strategies in large case-control studies to deliver robust genetic evidence of disease association.

(BRCA's) Cancer cure hopes as genetic code hereditary breast disease is mapped for first time - media

Cancer cure hopes as genetic code hereditary breast disease is mapped for first time

"....The study also included teams from the Institut Curie in France, the University Medical Centre Utrecht in the Netherlands, The Cancer Research UK London Research Institute in London and the University of Nottingham.
Last week the ICR, writing in the British Journal of Cancer, said all women under 50 who are diagnosed with triple-negative (TN) breast cancer should be screened for the BRCA1 gene fault, which also carries with it an additional high risk of developing ovarian cancer....."

press release: U of M researchers discover gene required to maintain male sex throughout life (Foxl2 gene/DMRT1)

"Previous research has shown that removing a gene, called Foxl2, in ovaries caused female cells to become male cells and the ovaries to become more like testes.....

FIGO news - Scientists discover three genes linked to breast cancer | International Federation of Gynecology and Obstetrics

Note: the PLOS Genetics paper is technical,  references Tamoxifen

"The study, which is published in the journal PloS Genetics, found the genes - C6ORF96, C6ORF97 and C6ORF211 - located next to the oestrogen receptor gene. According to the research, the three genes were linked to the oestrogen receptor but worked separately from it."

study excerpt:
"These findings suggest that the genes could contribute to the phenotype associated with oestrogen-receptor positivity. In addition, they may be involved in the mechanism by which genetic variation in this region of the genome contributes to breast cancer susceptibility."