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1

Predictors of breast cancer screening behavior in women with a strong family history of the disease

Melanie A. Price, Phyllis N. Butow, Margaret Charles, Tracey Bullen, Bettina Meiser, Joanne M. McKinley, Sue-Anne McLachlan, Kelly-Anne Phillips, kConFab Psychosocial and Clinical Follow-Up groups on

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 193 KB

english, 2010

2

Predictors of Cancer Worry in Unaffected Women from High Risk Breast Cancer Families: Risk Perception is not the Primary Issue

Melanie Anne Price, Phyllis Noami Butow, Sing Kai Lo, Judy Wilson, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) Psychosocial Group

Journal:

Journal of Genetic Counseling

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

3

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

4

Evaluation of established breast cancer risk factors as modifiers ofBRCA1orBRCA2: a multi-center case-only analysis

Patricia G. Moorman, Edwin S. Iversen, P. Kelly Marcom, Jeffrey R. Marks, Frances Wang, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab), Eunjung Lee, Giske Ursin, Timo

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

5

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

6

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

7

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

8

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

9

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

10

IsMSH2a breast cancer susceptibility gene?

EE Ming Wong, Andrea A. Tesoriero, Gulietta M. Pupo, kConFab, ABCFS, Margaret R. E. McCredie, Graham G. Giles, John L. Hopper, Graham J. Mann, David E. Goldgar, Melissa C. Southey

Journal:

Familial Cancer

Year:

2008

Language:

english

File:

PDF, 271 KB

english, 2008

11

No association ofTGFB1L10P genotypes and breast cancer risk inBRCA1andBRCA2mutation carriers: a multi-center cohort study

Timothy R. Rebbeck, Antonis C. Antoniou, Trinidad Caldes Llopis, Heli Nevanlinna, Kristiina Aittomäki, Jacques Simard, Amanda B. Spurdle, KConFab, Fergus J. Couch, Lutecia H. Mateus Pereira, Mark H. G

Journal:

Breast Cancer Research and Treatment

Year:

2009

Language:

english

File:

PDF, 218 KB

english, 2009

12

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

Ella R. Thompson, Samantha E. Boyle, Julie Johnson, Georgina L. Ryland, Sarah Sawyer, David Y.H. Choong, kConFab, Georgia Chenevix-Trench, Alison H. Trainer, Geoffrey J. Lindeman, Gillian Mitchell, Pa

Journal:

Year:

2012

Language:

english

File:

PDF, 180 KB

english, 2012

13

Pooled analysis indicates that theGSTT1deletion,GSTM1deletion, andGSTP1Ile105Val polymorphisms do not modify breast cancer risk inBRCA1andBRCA2mutation carriers

Amanda B. Spurdle, Paul Fahey, Xiaoqing Chen, Lesley McGuffog, kConFab, Douglas Easton, Susan Peock, Margaret Cook, EMBRACE, Jacques Simard, INHERIT, Tim R. Rebbeck, MAGIC, Antonis C. Antoniou, Georgi

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

14

Frequent somatic mutations ofGATA3in non-BRCA1/BRCA2familial breast tumors, but not inBRCA1-, BRCA2-or sporadic breast tumors

Jeremy M. Arnold, David Y. H. Choong, Ella R. Thompson, kConFab, Nic Waddell, Geoffrey J. Lindeman, Jane E. Visvader, Ian G. Campbell, Georgia Chenevix-Trench

Journal:

Breast Cancer Research and Treatment

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

15

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

16

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

17

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

18

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

19

Short- and Long-Term Impact of Receiving Genetic Mutation Results in Women at Increased Risk for Hereditary Breast Cancer

Jacqueline Lim, Mariette Macluran, Melanie Price, Barbara Bennett, Phyllis Butow, kConFab Psychosocial Group

Journal:

Journal of Genetic Counseling

Year:

2004

Language:

english

File:

PDF, 554 KB

english, 2004

20

Aromatase expression is increased inBRCA1mutation carriers

Ashwini L Chand, kConFab, Evan R Simpson, Colin D Clyne

Journal:

Year:

2009

Language:

english

File:

PDF, 277 KB

english, 2009

21

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

22

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

Thompson, Ella R., Rowley, Simone M., Sawyer, Sarah, kConFab,, Eccles, Diana M., Trainer, Alison H., Mitchell, Gillian, James, Paul A., Campbell, Ian G., Ellis, Nathan A.

Journal:

Year:

2013

Language:

english

File:

PDF, 386 KB

english, 2013

23

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

24

Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families

A. A. Tesoriero, E. M. Wong, M. A. Jenkins, J. L. Hopper, kConFab, M. A. Brown, G. Chenevix-Trench, A. B. Spurdle, M. C. Southey

Journal:

Year:

2005

Language:

english

File:

PDF, 243 KB

english, 2005

25

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

26

Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy

Cl Scott, DG Iorgulescu, HJ Thorne, MA Henderson, KA Phillips, Kathleen Cuningham Foundation Consortium for Familial Breast Cancer (kConFab)

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

27

TheRAD51DE233G variant and breast cancer risk: population-based and clinic-based family studies of Australian women

James G. Dowty, Felicity Lose, Mark A. Jenkins, Jiun-Horng Chang, XiaoQing Chen, Jonathan Beesley, Gillian S. Dite, Melissa C. Southey, Graham B. Byrnes, Andrea Tesoriero, Graham G. Giles, kConFab Inv

Journal:

Breast Cancer Research and Treatment

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

28

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

ER Thompson, SE Boyle, J Johnson, GL Ryland, S Sawyer, DY Choong, kConFab, G Chenevix-Trench, AH Trainer, GJ Lindeman, G Mitchell, PA James, IG Campbell

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 80 KB

english, 2012

29

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

30

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

31

Chromosome 2q24.2 is lost in sporadic but not in BRCA1-associated ovarian carcinomas

Aghmesheh, Morteza, Suo, Zhenhe, Friedlander, Michael, Nesland, Jahn M., Kaern, Janne, Stewart, Michael, Kconfab,, Dorum, Anne, Tucker, Katherine M, Buckley, Michael F.

Journal:

Year:

2006

Language:

english

File:

PDF, 200 KB

english, 2006

32

Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers

G. Chenevix-Trench, O. M. Sinilnikova, G. Suthers, N. Pandeya, S. Mazoyer, J. F. Sambrook, S. Goldup, D. Goldgar, H. T. Lynch, G. M. Lenoir, G. Cheetham, kConFab

Journal:

Familial Cancer

Year:

2005

Language:

english

File:

PDF, 147 KB

english, 2005

33

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

34

Intratumoral Cytokeratin 5 and Claudin 3 protein expression predicts for the presence of a BRCA1 germline mutation in women with early breast cancer

Danzinger, S., Yen Tan, Y., Rudas, M., Kastner, M.-T., Weingartshofer, S., Muhr, D., kConFab,, Singer, C.F.

Journal:

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

35

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

36

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

P Whiley, LC Walker, kConFab, M De LA Hoya, B Wappenschmidt, A Becker, A Blanco, MJ Blok, MA Caligo, C Chatfield, F Couch, O Diez, L Fachal, L Guidugli, S Gutiérrez Enríquez, T Hansen, C Houdayer, S I

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

37

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1

M.C. Southey, A. Tesoriero, M.A. Young, A. J. Holloway, M.A. Jenkins, J. Whitty, S. Misfud, kConFab, S.A. McLachlan, D.J. Venter, J.E. Armes

Journal:

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

38

Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2

Tú Nguyen-Dumont, Lars P Jordheim, Jocelyne Michelon, Nathalie Forey, Sandrine McKay-Chopin, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Olg

Journal:

BMC Medical Genomics

Year:

2011

Language:

english

File:

PDF, 1.63 MB

english, 2011

39

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

40

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

41

Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site

Brooke L. Brewster, Francesca Rossiello, Juliet D. French, Stacey L. Edwards, Ming Wong, Ania Wronski, Phillip Whiley, Nic Waddell, Xiaowei Chen, Betsy Bove, kConFab, John L. Hopper, Esther M. John, I

Journal:

Year:

2012

Language:

english

File:

PDF, 393 KB

english, 2012

42

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

43

Evidence forSMAD3as a modifier of breast cancer risk inBRCA2mutation carriers

Logan C Walker, Zachary S Fredericksen, Xianshu Wang, Robert Tarrell, Vernon S Pankratz, Noralane M Lindor, Jonathan Beesley, Sue Healey, Xiaoqing Chen, kConFab, Dominique Stoppa-Lyonnet, Carole Tirap

Journal:

Breast Cancer Research

Year:

2010

Language:

english

File:

PDF, 364 KB

english, 2010

44

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

45

Mutation analysis ofRAD51L1(RAD51B/REC2) in multiple-case, non-BRCA1/2breast cancer families

Julie Johnson, Sue Healey, Kum Kum Khanna, kConFab, Georgia Chenevix-Trench

Journal:

Breast Cancer Research and Treatment

Year:

2011

Language:

english

File:

PDF, 451 KB

english, 2011

46

Mutation analysis of five candidate genes in familial breast cancer

Anna Marsh, Sue Healey, Aaron Lewis, Amanda B. Spurdle, Mary Anne Kedda, Kum Kum Khanna, kConFab, Graham J. Mann, Gulietta M. Pupo, Sunil R. Lakhani, Georgia Chenevix-Trench

Journal:

Breast Cancer Research and Treatment

Year:

2007

Language:

english

File:

PDF, 187 KB

english, 2007

47

Searching for BRCA3 by exome sequencing

I Makunin, M Stark, M Gartside, kConFab, G Chenevix-Trench

Journal:

Hereditary Cancer in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 74 KB

english, 2012

48

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Verderio, P., Pizzamiglio, S., Southey, M. C., Spurdle, A. B., Hopper, J. L., Chen, X., Beesley, J., kConFab,, Schmutzler, R. K., Engel, C., Burwinkel, B., Bugert, P., Ficarazzi, F., Manoukian, S., B

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 72 KB

english, 2010

49

Rehabilitating the sick role: the experiences of high-risk women who undergo risk reducing breast surgery

Hallowell, Nina, Heiniger, Louise, Baylock, Brandi, Price, Melanie, Butow, Phyllis, kConFab Psychosocial Group on behal,

Journal:

Health Sociology Review

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

50

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

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