Precision Prevention – From Priority to Reality

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

J Coignard, M Lush, J Beesley, TA O’Mara, J Dennis, JP Tyrer, DR Barnes, L McGuffog, G Leslie, MK Bolla, MA Adank, S Agata, T Ahearn, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, N Arnold, KJ Aronson, BK Arun

2021-12-01

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants hav..

Underutilisation of breast cancer prevention medication in Australia

C Macdonald, JA Chamberlain, D Mazza, RL Milne, KA Phillips

2021-12-01

Increased implementation of proven prevention strategies is required to combat rising breast cancer incidence. We assessed use of ..

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

LH Schrijver, AC Antoniou, H Olsson, TM Mooij, MJ Roos-Blom, L Azarang, J Adlard, M Ahmed, D Barrowdale, R Davidson, A Donaldson, R Eeles, DG Evans, D Frost, A Henderson, L Izatt, KR Ong, V Bonadona, I Coupier, L Faivre

2021-07-01

Background: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contr..

Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort

RJ MacInnis, JA Knight, WK Chung, RL Milne, AS Whittemore, R Buchsbaum, Y Liao, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, AW Kurian, IL Andrulis, EM John, MB Daly, SS Buys, KA Phillips, JL Hopper, MB Terry

2021-06-01

Background: Clinical guidelines often use predicted lifetime risk from birth to define criteria for making decisions regarding bre..

Survival from breast cancer in women with a BRCA2 mutation by treatment

DG Evans, KA Phillips, RL Milne, R Fruscio, C Cybulski, J Gronwald, J Lubinski, T Huzarski, Z Hyder, C Forde, K Metcalfe, L Senter, J Weitzel, N Tung, D Zakalik, M Ekholm, P Sun, SA Narod, M Blasinska-Morawiec, M Chosia

2021-04-27

Background: The impact of various breast-cancer treatments on patients with a BRCA2 mutation has not been studied. We sought to es..

Motivators of Inappropriate Ovarian Cancer Screening: A Survey of Women and Their Clinicians

C MacDonald, D Mazza, M Hickey, M Hunter, LA Keogh, SC Jones, C Saunders, S Nesci, RL Milne, SA McLachlan, JL Hopper, ML Friedlander, J Emery, KA Phillips

2021-02-01

Background: This study examined why women and doctors screen for ovarian cancer (OC) contrary to guidelines. Methods: Surveys, bas..

Breast Cancer Chemoprevention: Use and Views of Australian Women and Their Clinicians.

Courtney Macdonald, Courtney Macdonald, Christobel M Saunders, Louise A Keogh, Morgan Hunter, Danielle Mazza, Sue-Anne McLachlan, Sandra C Jones, Stephanie Nesci, Michael L Friedlander, John L Hopper, Jon D Emery, Martha Hickey, Roger L Milne, Kelly-Anne Phillips, null Kathleen Cuningham Consortium for Research Into Familial Breast Cancer

2021-01-01

Guidelines endorse the use of chemoprevention for breast cancer risk reduction. This study examined the barriers and facilitators ..

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, N Mavaddat, J Adlard, M Ahmed, K Aittomäki, N Andrieu, IL Andrulis, N Arnold, BK Arun, J Azzollini, J Balmaña, RB Barkardottir, D Barrowdale, J Benitez, P Berthet

2020-10-01

Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian c..

Key steps for effective breast cancer prevention

KL Britt, J Cuzick, KA Phillips

2020-08-01

Despite decades of laboratory, epidemiological and clinical research, breast cancer incidence continues to rise. Breast cancer rem..

The PARP inhibitor, olaparib, depletes the ovarian reserve in mice: Implications for fertility preservation

AL Winship, M Griffiths, CL Requesens, U Sarma, KA Phillips, KJ Hutt

2020-08-01

STUDY QUESTION: What is the impact of the poly(ADP-ribose) polymerase (PARP) inhibitor, olaparib, alone or in combination with che..

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

H Feng, A Gusev, B Pasaniuc, L Wu, J Long, Z Abu-full, K Aittomäki, IL Andrulis, H Anton-Culver, AC Antoniou, A Arason, V Arndt, KJ Aronson, BK Arun, E Asseryanis, PL Auer, J Azzollini, J Balmaña, RB Barkardottir, DR Barnes

2020-07-01

Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expressio..

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, TA O’Mara, N Zhao, MK Bolla, AM Dunning, J Dennis, Q Wang, ZA Ful, K Aittomäki, IL Andrulis, H Anton-Culver, V Arndt, KJ Aronson, BK Arun

2020-06-01

Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype^1–3. To identify no..

Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results

RJ Macinnis, Y Liao, JA Knight, RL Milne, AS Whittemore, WK Chung, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, MC Southey, D Goldgar, GG Giles, SA McLachlan, PC Weideman, S Nesci, ML Friedlander, G Glendon, IL Andrulis, EM John

2020-04-01

The performance of breast cancer risk models for women with a family history but negative BRCA1 and/or BRCA2 mutation test results..

Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Results from the BRCA1 and BRCA2 cohort consortium

H Li, MB Terry, AC Antoniou, KA Phillips, K Kast, TM Mooij, C Engel, C Nogues, D Stoppa-Lyonnet, C Lasset, P Berthet, V Mari, O Caron, D Barrowdale, D Frost, C Brewer, DG Evans, L Izatt, L Side, L Walker

2020-02-01

Background: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effect..

Risk-reducing salpingo-oophorectomy and breast cancer risk reduction in the gynecologic oncology group protocol-0199 (GOG-0199)

PL Mai, A Miller, MH Gail, S Skates, K Lu, ME Sherman, OB Ioffe, G Rodriguez, DE Cohn, J Boggess, T Rutherford, ND Kauff, JS Rader, KA Phillips, PA DiSilvestro, AB Olawaiye, MR Ridgway, MH Greene, M Piedmonte, JL Walker

2020-02-01

Background: Risk-reducing salpingo-oophorectomy (RRSO) has been associated with approximately 50% breast cancer risk reduction amo..

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: An international prospective cohort of BRCA1 and BRCA2 mutation carriers

N Mavaddat, AC Antoniou, TM Mooij, MJ Hooning, BA Heemskerk-Gerritsen, C Noguès, L Laborde, E Breysse, D Stoppa-Lyonnet, M Gauthier-Villars, B Buecher, O Caron, E Fourme-Mouret, JP Fricker, C Lasset, V Bonadona, P Berthet, L Faivre, E Luporsi, V Mari

2020-01-16

Background: The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers i..

Prospective follow-up of quality of life for participants undergoing risk-reducing salpingo-oophorectomy or ovarian cancer screening in GOG-0199: An NRG Oncology/GOG study

PL Mai, HQ Huang, LB Wenzel, PK Han, RP Moser, GC Rodriguez, J Boggess, TJ Rutherford, DE Cohn, ND Kauff, KA Phillips, K Wilkinson, RM Wenham, C Hamilton, MA Powell, JL Walker, MH Greene, ML Hensley

2020-01-01

Background: Risk-reducing salpingo-oophorectomy (RRSO) and ovarian cancer screening (OCS) are management options for women at incr..

Recreational physical activity is associated with reduced breast cancer risk in adult women at high risk for breast cancer: A cohort study of women selected for familial and genetic risk

RD Kehm, JM Genkinger, RJ MacInnis, EM John, KA Phillips, GS Dite, RL Milne, N Zeinomar, Y Liao, JA Knight, MC Southey, WK Chung, GG Giles, SA McLachlan, KD Whitaker, M Friedlander, PC Weideman, G Glendon, S Nesci, K Investigators

2020-01-01

Although physical activity is associated with lower breast cancer risk for average-risk women, it is not known if this association..

Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool

Kelly-Anne Phillips, Yuyan Liao, Roger L Milne, Robert J MacInnis, Ian M Collins, Richard Buchsbaum, Prue C Weideman, Adrian Bickerstaffe, Stephanie Nesci, Wendy K Chung, Melissa C Southey, Julia A Knight, Alice S Whittemore, Gillian S Dite, David Goldgar, Graham G Giles, Gord Glendon, Jack Cuzick, Antonis C Antoniou, Irene L Andrulis

2019-12-01

<h4>Background</h4>iPrevent is an online breast cancer (BC) risk management decision support tool. It uses an internal switching a..

Alcohol consumption, cigarette smoking, and familial breast cancer risk: Findings from the Prospective Family Study Cohort (ProF-SC)

N Zeinomar, JA Knight, JM Genkinger, KA Phillips, MB Daly, RL Milne, GS Dite, RD Kehm, Y Liao, MC Southey, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, EM John

2019-11-28

Background: Alcohol consumption and cigarette smoking are associated with an increased risk of breast cancer (BC), but it is uncle..

Unexpected diagnosis of spinal leptomeningeal metastatic disease on MRI myelography

A Lasocki, KA Phillips, K Drummond, L Caspersz

2019-08-01

We present a case of leptomeningeal metastatic disease to the cauda equina detected on Magnetic Resonance myelography. The heavy T..

Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort

N Zeinomar, KA Phillips, MB Daly, RL Milne, GS Dite, RJ MacInnis, Y Liao, RD Kehm, JA Knight, MC Southey, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, EM John

2019-07-15

Benign breast disease (BBD) is an established breast cancer (BC) risk factor, but it is unclear whether the magnitude of the assoc..

Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: A cohort study

RD Kehm, JL Hopper, EM John, KA Phillips, RJ MacInnis, GS Dite, RL Milne, Y Liao, N Zeinomar, JA Knight, MC Southey, L Vahdat, N Kornhauser, T Cigler, WK Chung, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon

2019-04-18

Background: The use of aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs) has been associated with reduced breast ca..

10-year performance of four models of breast cancer risk: a validation study

MB Terry, Y Liao, AS Whittemore, N Leoce, R Buchsbaum, N Zeinomar, GS Dite, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, SA McLachlan, ML Friedlander, PC Weideman, G Glendon, S Nesci, IL Andrulis, EM John

2019-04-01

Background: Independent validation is essential to justify use of models of breast cancer risk prediction and inform decisions abo..

Risk-reducing oophorectomy and breast cancer risk across the spectrum of familial risk

MB Terry, MB Daly, KA Phillips, X Ma, N Zeinomar, N Leoce, GS Dite, RJ MacInnis, WK Chung, JA Knight, MC Southey, RL Milne, D Goldgar, GG Giles, PC Weideman, G Glendon, R Buchsbaum, IL Andrulis, EM John, SS Buys

2019-03-01

There remains debate about whether risk-reducing salpingo-oophorectomy (RRSO), which reduces ovarian cancer risk, also reduces bre..

Conservative management of reproductive cancers. Ovarian protection during treatment

W Cui, KA Phillips

2019-02-01

Globally, breast cancer is the most common female reproductive cancer. Although alkylating chemotherapy is not part of initial cur..

Consumer and clinician perspectives on personalising breast cancer prevention information

LA Keogh, E Steel, P Weideman, P Butow, IM Collins, JD Emery, GB Mann, A Bickerstaffe, AH Trainer, LJ Hopper, KA Phillips

2019-02-01

Background: Personalised prevention of breast cancer has focused on women at very high risk, yet most breast cancers occur in wome..

Final analysis of the prevention of early menopause study (POEMS)/SWOG intergroup S0230

HCF Moore, JM Unger, KA Phillips, F Boyle, E Hitre, A Moseley, DJ Porter, PA Francis, LJ Goldstein, HL Gomez, CS Vallejos, AH Partridge, SR Dakhil, AA Garcia, JR Gralow, JM Lombard, JF Forbes, S Martino, WE Barlow, CJ Fabian

2019-02-01

Premature menopause is a serious long-term side effect of chemotherapy. We evaluated long-term pregnancy and disease-related outco..

Preventing ovarian failure associated with chemotherapy

W Cui, C Stern, M Hickey, F Goldblatt, A Anazodo, WS Stevenson, KA Phillips

2018-11-05

Alkylating chemotherapy is often used to treat pre-menopausal women for various malignancies and autoimmune diseases. Chemotherapy..

Age-specific breast cancer risk by body mass index and familial risk: Prospective family study cohort (ProF-SC)

JL Hopper, GS Dite, RJ MacInnis, Y Liao, N Zeinomar, JA Knight, MC Southey, RL Milne, WK Chung, GG Giles, JM Genkinger, SA McLachlan, ML Friedlander, AC Antoniou, PC Weideman, G Glendon, S Nesci, IL Andrulis, SS Buys, MB Daly

2018-11-03

Background: The association between body mass index (BMI) and risk of breast cancer depends on time of life, but it is unknown whe..

The iPrevent online breast cancer risk assessment and risk management tool: Usability and acceptability testing

LL Lo, IM Collins, M Bressel, P Butow, J Emery, L Keogh, P Weideman, E Steel, JL Hopper, AH Trainer, GB Mann, A Bickerstaffe, AC Antoniou, J Cuzick, KA Phillips

2018-11-01

Background: iPrevent estimates breast cancer (BC) risk and provides tailored risk management information. Objective: The objective..

Development and pilot testing of a Decision Aid (DA) for women with early-stage breast cancer considering contralateral prophylactic mastectomy

B Ager, J Jansen, D Porter, KA Phillips, R Glassey, N Rankin, T Musiello, F Boyle, N Zdenkowski, A Skandarajah, C Saunders, P Sundaresan, R De Abreu Lourenco, P Butow

2018-08-01

Objective: Describe the development, acceptability and feasibility of a Decision Aid (DA) for women with early-stage breast cancer..

Does stress increase risk of breast cancer? A 15-year prospective study

P Butow, M Price, J Coll, K Tucker, B Meiser, R Milne, J Wilson, L Heiniger, B Baylock, T Bullen, P Weideman, KA Phillips

2018-08-01

Objective: The possible impact of stress on cancer incidence remains controversial. We prospectively evaluated associations betwee..

Validation of the IBIS breast cancer risk evaluator for women with lobular carcinoma in-situ

LL Lo, RL Milne, Y Liao, J Cuzick, MB Terry, KA Phillips

2018-07-03

Background: Management advice for women with lobular carcinoma in situ (LCIS) is hampered by the lack of accurate personalised ris..

Oral contraceptive use and breast cancer risk: Retrospective and prospective analyses from a BRCA1 and BRCA2 mutation carrier cohort study

LH Schrijver, H Olsson, KA Phillips, MB Terry, DE Goldgar, K Kast, C Engel, TM Mooij, J Adlard, D Barrowdale, R Davidson, R Eeles, S Ellis, DG Evans, D Frost, L Izatt, ME Porteous, LE Side, L Walker, P Berthet

2018-04-01

Background: For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast can..

Association analysis identifies 65 new breast cancer risk loci

K Michailidou, S Lindström, J Dennis, J Beesley, S Hui, S Kar, A Lemaçon, P Soucy, D Glubb, A Rostamianfar, MK Bolla, Q Wang, J Tyrer, E Dicks, A Lee, Z Wang, J Allen, R Keeman, U Eilber, JD French

2017-11-02

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-codin..

Genetic testing in women with breast cancer: implications for treatment

R Paterson, KA Phillips

2017-11-02

Introduction: Mutations in either the BRCA1 or BRCA2 genes are responsible for approximately 42,000 cases of breast cancer annuall..

Improved quality of risk-reducing salpingo-oophorectomy in Australasian women at high risk of pelvic serous cancer

YC Lee, M Bressel, P Grant, P Russell, C Smith, S Picken, S Camm, BE Kiely, RL Milne, SA McLachlan, M Hickey, ML Friedlander, JL Hopper, KA Phillips

2017-10-01

Objectives: The quality of risk-reducing salpingo-oophorectomy (RRSO) performed in Australasian women was previously reported to b..

Risk of uterine cancer for BRCA1 and BRCA2 mutation carriers

YC Lee, RL Milne, S Lheureux, M Friedlander, SA McLachlan, KL Martin, MQ Bernardini, C Smith, S Picken, S Nesci, JL Hopper, KA Phillips

2017-10-01

Background Whether BRCA1 and BRCA2 mutation carriers have a clinically relevant elevated risk of uterine cancer has implications f..

Early detection of ovarian cancer using the risk of ovarian cancer algorithm with frequent CA125 testing in women at increased familial risk – Combined results from two screening trials

SJ Skates, MH Greene, SS Buys, PL Mai, P Brown, M Piedmonte, G Rodriguez, JO Schorge, M Sherman, MB Daly, T Rutherford, WR Brewster, DM O'Malley, E Partridge, J Boggess, CW Drescher, C Isaacs, A Berchuck, S Domchek, SA Davidson

2017-07-15

Purpose: Women at familial/genetic ovarian cancer risk often undergo screening despite unproven efficacy. Research suggests each w..

Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, MJ Roos-Blom, S Jervis, FE van Leeuwen, RL Milne, N Andrieu, DE Goldgar, MB Terry, MA Rookus, DF Easton, AC Antoniou, L McGuffog, DG Evans, D Barrowdale, D Frost, J Adlard

2017-06-20

IMPORTANCE The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. OBJE..

Testing for gene-environment interactions using a prospective family cohort design: Body mass index in early and later adulthood and risk of breast cancer

GS Dite, RJ MacInnis, A Bickerstaffe, JG Dowty, RL Milne, AC Antoniou, P Weideman, C Apicella, GG Giles, MC Southey, MA Jenkins, KA Phillips, A Ko Win, MB Terry, JL Hopper

2017-03-15

The ability to classify people according to their underlying genetic susceptibility to a disease is increasing with new knowledge,..

Women's preferences for contralateral prophylactic mastectomy following unilateral breast cancer: What risk-reduction makes it worthwhile?

S Tesson, I Richards, D Porter, KA Phillips, N Rankin, D Costa, T Musiello, M Marven, P Butow

2017-02-01

Objectives Contralateral prophylactic mastectomy (CPM) reduces the risk of contralateral breast cancer (BC) following unilateral B..

Breast cancer risk prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab

H Li, B Feng, A Miron, X Chen, J Beesley, E Bimeh, D Barrowdale, EM John, MB Daly, IL Andrulis, SS Buys, P Kraft, H Thorne, G Chenevix-Trench, MC Southey, AC Antoniou, PA James, MB Terry, KA Phillips, JL Hopper

2017-01-01

Purpose:This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-Associated brea..