13 Result(s)

Article

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin… in Nature Communications (2023)

Article

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

DNA repair defects underlie many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline defects in polymerase proofreading or base excision repair. A pare...

Kitty Sherwood, Joseph C. Ward, Ignacio Soriano, Lynn Martin… in Nature Communications (2023)

Article

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the “real world” m...

Eamonn R. Maher, Julian Adlard, Julian Barwell… in British Journal of Cancer (2022)

Article

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown.

Frank Qian, Matti A. Rookus, Goska Leslie, Harvey A. Risch… in British Journal of Cancer (2019)

Article

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To invest...

Yosr Hamdi, Penny Soucy, Karoline B. Kuchenbaeker… in Breast Cancer Research and Treatment (2017)

Article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are dif...

Karoline B Kuchenbaecker, Susan L Neuhausen, Mark Robson… in Breast Cancer Research (2014)

Article

Exploring the link between MORF4L1 and risk of breast cancer

Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on...

Griselda Martrat, Christopher A Maxwell, Emiko Tominaga… in Breast Cancer Research (2011)

Article

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide associati...

Logan C Walker, Zachary S Fredericksen, **anshu Wang… in Breast Cancer Research (2010)

Article

High-throughput genomic technology in research and clinical management of breast cancer. Exploiting the potential of gene expression profiling: is it ready for the clinic?

Gene expression profiling is a relatively new technology for the study of breast cancers, but within the past few years there has been a rapid rise in interest in its potential to improve the clinical manageme...

Andrew H Sims, Kai Ren Ong, Robert B Clarke, Anthony Howell in Breast Cancer Research (2006)

Article

Morrow M, Jordan VC: Managing Breast Cancer Risk. 1st Edition. Hamilton, Ontario: BC Decker Inc

Kai Ren Ong, Anthony Howell in Breast Cancer Research (2005)