kConFab investigators: search on Z-Library

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1

Rehabilitating the sick role: post-surgical experiences of high risk women who undergo risk reducing mastectomy

N Hallowell, L Heiniger, B Baylock, M Price, P Butow, kConFab Psychosocial Group, kConFab Investigators

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 71 KB

english, 2012

2

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

Amanda B. Spurdle, Sunil R. Lakhani, Leonard M. Da Silva, Rosemary L. Balleine, kConFab Investigators, David E. Goldgar

Journal:

Year:

2010

Language:

english

File:

PDF, 99 KB

english, 2010

3

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

Phillip J. Whiley, Lucia Guidugli, Logan C. Walker, Sue Healey, Bryony A. Thompson, Sunil R. Lakhani, Leonard M. Da Silva, kConFab Investigators, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown,

Journal:

Year:

2011

Language:

english

File:

PDF, 293 KB

english, 2011

4

Effect ofBRCA2sequence variants predicted to disrupt exonic splice enhancers onBRCA2transcripts

Phillip J Whiley, Christopher A Pettigrew, Brooke L Brewster, Logan C Walker, KConFab Investigators, Amanda B Spurdle, Melissa A Brown

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 574 KB

english, 2010

5

A high-throughput protocol for mutation scanning of theBRCA1andBRCA2genes

Heather L Hondow, Stephen B Fox, Gillian Mitchell, Rodney J Scott, Victoria Beshay, Stephen Q Wong, kConFab Investigators, Alexander Dobrovic

Journal:

Year:

2011

Language:

english

File:

PDF, 358 KB

english, 2011

6

Prediction ofBRCA1andBRCA2mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability

Paul K. Lovelock, Ee Ming Wong, Carl N. Sprung, Anna Marsh, Karen Hobson, Juliet D. French, Melissa Southey, kConFab Investigators, Tom Sculley, Nirmala Pandeya, Melissa A. Brown, Georgia Chenevix-Tre

Journal:

Breast Cancer Research and Treatment

Year:

2007

Language:

english

File:

PDF, 454 KB

english, 2007

7

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk inBRCA1/2mutation carriers

Logan C. Walker, Nic Waddell, Anette Ten Haaf, kConFab Investigators, Sean Grimmond, Amanda B. Spurdle

Journal:

Breast Cancer Research and Treatment

Year:

2008

Language:

english

File:

PDF, 197 KB

english, 2008

8

No evidence thatGATA3rs570613 SNP modifies breast cancer risk

Sharon E. Johnatty, Fergus J. Couch, Zachary Fredericksen, Robert Tarrell, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, AOCS Group, The Swedish BRCA1 and BRCA2 Study Coll

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 205 KB

english, 2009

9

Nuclear and cytoplasmic expressions of ERβ1 and ERβ2 are predictive of response to therapy and alters prognosis in familial breast cancers

Max Yan, Mukta Rayoo, Elena A. Takano, kConFab Investigators, Stephen B. Fox

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 254 KB

english, 2011

10

Prospective study of breast cancer risk for mutation negative women fromBRCA1orBRCA2mutation positive families

S. L. Harvey, R. L. Milne, S. A. McLachlan, M. L. Friedlander, K. E. Birch, P. Weideman, kConFab Investigators, D. Goldgar, J. L. Hopper, K. A. Phillips

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 194 KB

english, 2011

11

Predictors of participation in clinical and psychosocial follow-up of the kConFab breast cancer family cohort

Kelly-Anne Phillips, Phyllis N. Butow, Ailsa E. Stewart, Jiun-Horng Chang, Prue C. Weideman, Melanie A. Price, Sue Anne McLachlan, kConFab Investigators, Geoffrey J. Lindeman, Michael J. McKay, Michae

Journal:

Familial Cancer

Year:

2005

Language:

english

File:

PDF, 218 KB

english, 2005

12

Adequacy of risk-reducing gynaecologic surgery inBRCA1orBRCA2mutation carriers and other women at high risk of pelvic serous cancer

B. E. Kiely, M. L. Friedlander, R. L. Milne, L. Stanhope, P. Russell, M. A. Jenkins, P. Weideman, S. A. McLachlan, P. Grant, kConFab Investigators, J. L. Hopper, K. A. Phillips

Journal:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 1.60 MB

english, 2011

13

Histopathological features of breast cancer in carriers of ATM gene variants

R L Balleine, R Murali, A M Bilous, G Farshid, P Waring, P Provan, K Byth, H Thorne, kConFab Investigators, J A Kirk

Journal:

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

14

Does cyclin D1 discriminate between BRCA2 and BRCAX breast cancers?

Max Yan, kConFab investigators, Stephen B Fox

Journal:

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

15

Risk-reducing surgery, screening and chemoprevention practices of BRCA1 and BRCA2 mutation carriers: a prospective cohort study

K-A Phillips, MA Jenkins, GJ Lindeman, SA McLachlan, JM McKinley, PC Weideman, JL Hopper, ML Friedlander, kConFab Investigators

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

16

Evaluation of Association Methods for Analysing Modifiers of Disease Risk in Carriers of High-Risk Mutations

Daniel R. Barnes, Andrew Lee, EMBRACE Investigators, kConFab Investigators, Douglas F. Easton, Antonis C. Antoniou

Journal:

Genetic Epidemiology

Year:

2012

Language:

english

File:

PDF, 733 KB

english, 2012

17

Are women at high risk for serous gynaecological cancer (SGC) opting for risk-reducing salphingo-oophorectomy motivated by high levels of anxiety and risk perceptions?

B Meiser, MA Price, PN Butow, J Karatas, M Charles, KA Phillips, kConFab Psychosocial and Clinical Follow-Up groups, kConFab investigators

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 79 KB

english, 2012

18

RAD21 overexpression is frequently observed in BRCA-X Prostate Cancers

S Deb, X Huiling, H Thorne, A Willems-Jones, KconFab Investigators, D Clouston, D Bolton, R Ramsay, SB Fox

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

19

Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas

Siddhartha Deb, Nicholas Jene, kConFab investigators, Stephen B Fox

Journal:

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

20

Nuclear HIF1A expression is strongly prognostic in sporadic but not familial male breast cancer

Deb, Siddhartha, Johansson, Ida, Byrne, David, Nilsson, Cecilia, Investigators, kConFab, Constable, Leonie, Fjällskog, Marie-Louise, Dobrovic, Alexander, Hedenfalk, Ingrid, Fox, Stephen B

Journal:

Modern Pathology

Year:

2014

Language:

english

File:

PDF, 288 KB

english, 2014

21

BRCA1 and BRCA2 Missense Variants of High and Low Clinical Significance Influence Lymphoblastoid Cell Line Post-Irradiation Gene Expression

Waddell, Nic, Ten Haaf, Anette, Marsh, Anna, Johnson, Julie, Walker, Logan C., Investigators, kConFab, Gongora, Milena, Brown, Melissa, Grover, Piyush, Girolami, Mark, Grimmond, Sean, Chenevix-Trench,

Journal:

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

22

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

Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B., Stranger, Barbara E.

Journal:

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

23

DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer

Flower, Kirsty J., Shenker, Natalie S., El-Bahrawy, Mona, Goldgar, David E, Parsons, Michael T., Investigators, KConFab, study group, AFFECT, Spurdle, Amanda B., Morris, Joanna R., Brown, Robert, Flan

Journal:

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

24

BRCA2 carriers with male breast cancer show elevated tumour methylation

Deb, Siddhartha, Gorringe, Kylie L., Pang, Jia-Min B., Byrne, David J., Takano, Elena A., Investigators, kConFab, Dobrovic, Alexander, Fox, Stephen B.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

25

Patients' perspectives and experiences concerning barriers to accessing information about bilateral prophylactic mastectomy

Glassey, Rachael, O'Connor, Moira, Ives, Angela, Saunders, Christobel, kConFab Investigators,, O'Sullivan, Sarah, Hardcastle, Sarah J.

Journal:

Year:

2018

Language:

english

File:

PDF, 874 KB

english, 2018

26

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells

Lattimore, Vanessa, Pearson, John, Morley-Bunker, Arthur, Investigators, kConFab, Spurdle, Amanda, Robinson, Bridget, Currie, Margaret, Walker, Logan

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 1.05 MB

english, 2019

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