Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer
- Creator: Singh, Ashish Kimar , Talseth-Palmer, Bente , McPhillips, Mary , Lavik, Liss Anne Solberg , Xavier, Alexandre , Drablos, Finn , Sjursen, Wenche
- Resource Type: journal article
- Date: 2020
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations
- Creator: Sjursen, Wenche , McPhillips, Mary , Scott, Rodney J. , Talseth-Palmer, Bente A.
- Resource Type: journal article
- Date: 2016
Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families
- Creator: Talseth-Palmer, Bente A. , Bauer, Denis C. , Sjursen, Wenche , Evans, Tiffany J. , McPhillips, Mary , Proietto, Anthony , Otton, Geoffrey , Spigelman, Allan D. , Scott, Rodney J.
- Resource Type: journal article
- Date: 2016
When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
- Creator: Wong-Brown, Michelle , McPhillips, Mary , Gleeson, Margaret , Spigelman, Allan D. , Meldrum, Cliff J. , Dooley, Susan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2016
Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
- Creator: Talseth-Palmer, Bente A. , Wijnen, Juul T. , Suchy, Janina , Kurzawski, Grzegorz , The Dutch Cancer Genetics Group, , Spigelman, Allan , Møller, Pål , Morreau, Hans M. , Van Wezel, Tom , Lubinski, Jan , Vasen, Hans F. A. , Scott, Rodney J. , Brenne, Ingvild S. , Jagmohan-Changur, Shantie , Barker, Daniel , Ashton, Katie A. , Tops, Carli M. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire
- Resource Type: journal article
- Date: 2013
Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
- Creator: Talseth-Palmer, Bente A. , Brenne, Ingvild S. , Scott, Rodney J. , Ashton, Katie A. , Evans, Tiffany-Jane , McPhillips, Mary , Groombridge, Claire , Suchy, Janina , Kurzawski, Grzegorz , Spigelman, Allan , Lubinski, Jan
- Resource Type: journal article
- Date: 2011
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer
- Creator: Talseth-Palmer, Bente A. , McPhillips, Mary , Groombridge, Claire , Spigelman, Allan , Scott, Rodney J.
- Resource Type: journal article
- Date: 2010
Deletion mutations in an Australian series of HNPCC patients
- Creator: McPhillips, Mary , Meldrum, C. J. , Scott, Rodney J , Creegan, Rhona , Edkins, Edward
- Resource Type: journal article
- Date: 2005
Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
- Creator: Scott, Rodney J. , McPhillips, Mary , Meldrum, Cliff J. , Fitzgerald, Patrick E. , Adams, Kirsten , Spigelman, Allan D. , du Sart, Desiree , Tucker, Kathy , Kirk, Judy , Hunter Family Cancer Service,
- Resource Type: journal article
- Date: 2001