Reevaluation of RINT1 as a breast cancer predisposition gene

N Li, ER Thompson, SM Rowley, S McInerny… - Breast cancer research …, 2016 - Springer
Abstract Rad50 interactor 1 (RINT1) has recently been reported as an intermediate-
penetrance (odds ratio 3.24) breast cancer susceptibility gene, as well as a risk factor for …

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

…, Lifepool Investigators… - Journal of medical …, 2016 - jmg.bmj.com
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi
Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations …

[HTML][HTML] Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls

…, R Lupat, MB Delatycki, LifePool Investigators… - Breast Cancer …, 2015 - Springer
Introduction PALB2 is emerging as a high-penetrance breast cancer predisposition gene in
the order of BRCA1 and BRCA2. However, large studies that have evaluated the full gene …

Mutations in RECQL are not associated with breast cancer risk in an Australian population

…, S McInerny, L Devereux, LifePool Investigators… - Nature …, 2018 - nature.com
To the Editor—The slow progress of intensive international efforts over the past two decades
to identify the remaining genetic causes of familial breast cancer suggests that numerous …

[HTML][HTML] Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

…, Lifepool Investigators Campbell Ian G. Devereux Lisa … - Scientific reports, 2015 - nature.com
The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of
unknown effect. The variant rs11571833, an A> T transversion in the final exon of the gene …

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing

…, Lifepool Investigators… - Journal of medical …, 2016 - snucm.elsevierpure.com
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi
Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations …

[CITATION][C] Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG. Reevaluation of the BRCA2 truncating allele c. 9976A> T (p. Lys3326Ter) in a familial breast …

…, L Devereux, J Li, Lifepool Investigators - Sci Rep, 2015

[CITATION][C] Nevelsteen I., van den Ouweland A

…, D Lambrechts, N Li, Lifepool Investigators… - 2016