Journal Article
. 2018 Jan; 19(2):169-180.
doi: 10.1016/S1470-2045(17)30891-4.

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study

Ellen R Copson 1 Tom C Maishman 2 Will J Tapper 3 Ramsey I Cutress 1 Stephanie Greville-Heygate 4 Douglas G Altman 5 Bryony Eccles 1 Sue Gerty 2 Lorraine T Durcan 2 Louise Jones 6 D Gareth Evans 7 Alastair M Thompson 8 Paul Pharoah 9 Douglas F Easton 9 Alison M Dunning 9 Andrew Hanby 10 Sunil Lakhani 11 Ros Eeles 12 Fiona J Gilbert 13 Hisham Hamed 14 Shirley Hodgson 15 Peter Simmonds 16 Louise Stanton 2 Diana M Eccles 17 
Affiliations
  • PMID: 29337092
  •     29 References
  •     74 citations

Abstract

Background: Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on the prognosis of patients with breast cancer. The primary aim of this study was to determine the effect of a germline BRCA1 or BRCA2 mutation on breast cancer outcomes in patients with young-onset breast cancer.

Methods: We did a prospective cohort study of female patients recruited from 127 hospitals in the UK aged 40 years or younger at first diagnosis (by histological confirmation) of invasive breast cancer. Patients with a previous invasive malignancy (except non-melanomatous skin cancer) were excluded. Patients were identified within 12 months of initial diagnosis. BRCA1 and BRCA2 mutations were identified using blood DNA collected at recruitment. Clinicopathological data, and data regarding treatment and long-term outcomes, including date and site of disease recurrence, were collected from routine medical records at 6 months, 12 months, and then annually until death or loss to follow-up. The primary outcome was overall survival for all BRCA1 or BRCA2 mutation carriers (BRCA-positive) versus all non-carriers (BRCA-negative) at 2 years, 5 years, and 10 years after diagnosis. A prespecified subgroup analysis of overall survival was done in patients with triple-negative breast cancer. Recruitment was completed in 2008, and long-term follow-up is continuing.

Findings: Between Jan 24, 2000, and Jan 24, 2008, we recruited 2733 women. Genotyping detected a pathogenic BRCA mutation in 338 (12%) patients (201 with BRCA1, 137 with BRCA2). After a median follow-up of 8·2 years (IQR 6·0-9·9), 651 (96%) of 678 deaths were due to breast cancer. There was no significant difference in overall survival between BRCA-positive and BRCA-negative patients in multivariable analyses at any timepoint (at 2 years: 97·0% [95% CI 94·5-98·4] vs 96·6% [95·8-97·3]; at 5 years: 83·8% [79·3-87·5] vs 85·0% [83·5-86·4]; at 10 years: 73·4% [67·4-78·5] vs 70·1% [67·7-72·3]; hazard ratio [HR] 0·96 [95% CI 0·76-1·22]; p=0·76). Of 558 patients with triple-negative breast cancer, BRCA mutation carriers had better overall survival than non-carriers at 2 years (95% [95% CI 89-97] vs 91% [88-94]; HR 0·59 [95% CI 0·35-0·99]; p=0·047) but not 5 years (81% [73-87] vs 74% [70-78]; HR 1·13 [0·70-1·84]; p=0·62) or 10 years (72% [62-80] vs 69% [63-74]; HR 2·12 [0·82-5·49]; p= 0·12).

Interpretation: Patients with young-onset breast cancer who carry a BRCA mutation have similar survival as non-carriers. However, BRCA mutation carriers with triple-negative breast cancer might have a survival advantage during the first few years after diagnosis compared with non-carriers. Decisions about timing of additional surgery aimed at reducing future second primary-cancer risks should take into account patient prognosis associated with the first malignancy and patient preferences.

Funding: Cancer Research UK, the UK National Cancer Research Network, the Wessex Cancer Trust, Breast Cancer Now, and the PPP Healthcare Medical Trust Grant.

Obesity and the outcome of young breast cancer patients in the UK: the POSH study.
E R Copson, R I Cutress, +10 authors, POSH Study Steering Group.
Ann Oncol, 2014 Nov 02; 26(1). PMID: 25361993
Familial invasive breast cancers: worse outcome related to BRCA1 mutations.
D Stoppa-Lyonnet, Y Ansquer, +9 authors, B Asselain.
J Clin Oncol, 2000 Dec 19; 18(24). PMID: 11118466
Predictors of Chemosensitivity in Triple Negative Breast Cancer: An Integrated Genomic Analysis.
Tingting Jiang, Weiwei Shi, +8 authors, Christos Hatzis.
PLoS Med, 2016 Dec 14; 13(12). PMID: 27959926    Free PMC article.
Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction.
B A M Heemskerk-Gerritsen, C Seynaeve, +14 authors, Hereditary Breast and Ovarian Cancer Research Group Netherlands.
J Natl Cancer Inst, 2015 Mar 20; 107(5). PMID: 25788320
Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer.
Francisco J Candido-dos-Reis, Honglin Song, +59 authors, Australian Ovarian Cancer Study Group.
Clin Cancer Res, 2014 Nov 16; 21(3). PMID: 25398451    Free PMC article.
Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression.
Carey K Anders, David S Hsu, +10 authors, Kimberly L Blackwell.
J Clin Oncol, 2008 Jul 10; 26(20). PMID: 18612148
Highly Cited.
Prognosis of BRCA-associated breast cancer: a summary of evidence.
L Bordeleau, S Panchal, P Goodwin.
Breast Cancer Res Treat, 2009 Oct 01; 119(1). PMID: 19789974
Review.
Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy.
Tomasz Byrski, Jacek Gronwald, +10 authors, Steven Narod.
J Clin Oncol, 2009 Dec 17; 28(3). PMID: 20008645
Highly Cited.
Prospective observational study of breast cancer treatment outcomes for UK women aged 18-40 years at diagnosis: the POSH study.
Ellen Copson, Bryony Eccles, +11 authors, POSH Study Steering Group.
J Natl Cancer Inst, 2013 Jun 01; 105(13). PMID: 23723422
Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations.
Gad Rennert, Shantih Bisland-Naggan, +4 authors, Steven A Narod.
N Engl J Med, 2007 Jul 13; 357(2). PMID: 17625123
Breast cancer prognosis in BRCA1 and BRCA2 mutation carriers: an International Prospective Breast Cancer Family Registry population-based cohort study.
Pamela J Goodwin, Kelly-Anne Phillips, +11 authors, Teri A Longacre.
J Clin Oncol, 2011 Dec 08; 30(1). PMID: 22147742
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
Br J Cancer, 2000 Oct 25; 83(10). PMID: 11044354    Free PMC article.
Highly Cited.
Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.
Kathleen E Malone, Janet R Daling, +19 authors, Elaine A Ostrander.
Cancer Res, 2006 Aug 17; 66(16). PMID: 16912212
Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1.
L C Verhoog, C T Brekelmans, +10 authors, J G Klijn.
Lancet, 1998 Jul 04; 351(9099). PMID: 9652611
Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer.
Tomasz Huzarski, Tomasz Byrski, +20 authors, Steven A Narod.
J Clin Oncol, 2013 Aug 14; 31(26). PMID: 23940229
Ethnicity and outcome of young breast cancer patients in the United Kingdom: the POSH study.
E Copson, T Maishman, +10 authors, Diana Eccles.
Br J Cancer, 2013 Oct 24; 110(1). PMID: 24149174    Free PMC article.
Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.
Zora Baretta, Simone Mocellin, +2 authors, Dezheng Huo.
Medicine (Baltimore), 2016 Oct 18; 95(40). PMID: 27749552    Free PMC article.
Systematic Review.
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Nasim Mavaddat, Daniel Barrowdale, +136 authors, Consortium of Investigators of Modifiers of BRCA1/2.
Cancer Epidemiol Biomarkers Prev, 2011 Dec 07; 21(1). PMID: 22144499    Free PMC article.
Highly Cited.
Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocol.
Diana Eccles, Sue Gerty, +4 authors, POSH steering group.
BMC Cancer, 2007 Aug 19; 7. PMID: 17697367    Free PMC article.
Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status.
Pal Moller, D Gareth Evans, +9 authors, C Michael Steel.
Int J Cancer, 2007 May 02; 121(5). PMID: 17471561
Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.
S R Lakhani, J Jacquemier, +38 authors, D F Easton.
J Natl Cancer Inst, 1998 Aug 13; 90(15). PMID: 9701363
Highly Cited.
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies.
Erik von Elm, Douglas G Altman, +4 authors, STROBE Initiative.
Lancet, 2007 Dec 08; 370(9596). PMID: 18064739
Highly Cited.
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
Kelly L Bolton, Georgia Chenevix-Trench, +75 authors, Cancer Genome Atlas Research Network.
JAMA, 2012 Jan 26; 307(4). PMID: 22274685    Free PMC article.
Highly Cited.
Local Recurrence and Breast Oncological Surgery in Young Women With Breast Cancer: The POSH Observational Cohort Study.
Tom Maishman, Ramsey I Cutress, +4 authors, Diana M Eccles.
Ann Surg, 2016 Jul 28; 266(1). PMID: 27455160    Free PMC article.
Worse breast cancer prognosis of BRCA1/BRCA2 mutation carriers: what's the evidence? A systematic review with meta-analysis.
Alexandra J van den Broek, Marjanka K Schmidt, +2 authors, Flora E van Leeuwen.
PLoS One, 2015 Mar 31; 10(3). PMID: 25816289    Free PMC article.
Systematic Review.
Breast Cancer Survival of BRCA1/BRCA2 Mutation Carriers in a Hospital-Based Cohort of Young Women.
Marjanka K Schmidt, Alexandra J van den Broek, +11 authors, Laura J van 't Veer.
J Natl Cancer Inst, 2017 Apr 05; 109(8). PMID: 28376189
Platinum chemotherapy for BRCA1-related breast cancer: do we need more evidence?
Nicholas C Turner, Andrew N J Tutt.
Breast Cancer Res, 2012 Nov 14; 14(6). PMID: 23146216    Free PMC article.
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.
A C Antoniou, A P Cunningham, +29 authors, D F Easton.
Br J Cancer, 2008 Mar 20; 98(8). PMID: 18349832    Free PMC article.
Highly Cited.
A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment.
Mark E Robson, Pierre O Chappuis, +9 authors, William D Foulkes.
Breast Cancer Res, 2003 Dec 19; 6(1). PMID: 14680495    Free PMC article.
Update Breast Cancer 2018 (Part 1) - Primary Breast Cancer and Biomarkers.
Florin-Andrei Taran, Andreas Schneeweiss, +19 authors, Florian Schütz.
Geburtshilfe Frauenheilkd, 2018 Mar 27; 78(3). PMID: 29576629    Free PMC article.
Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
Marius Wunderle, Gregor Olmes, +16 authors, Peter A Fasching.
Geburtshilfe Frauenheilkd, 2018 Jun 09; 78(5). PMID: 29880983    Free PMC article.
Development and Validation of Nomograms for Predicting Overall and Breast Cancer-Specific Survival in Young Women with Breast Cancer: A Population-Based Study.
Yue Gong, Peng Ji, +3 authors, Zhi-Ming Shao.
Transl Oncol, 2018 Sep 07; 11(6). PMID: 30189361    Free PMC article.
Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis.
Yixiao Feng, Mia Spezia, +15 authors, Guosheng Ren.
Genes Dis, 2018 Sep 28; 5(2). PMID: 30258937    Free PMC article.
Highly Cited. Review.
Update Breast Cancer 2018 (Part 3) - Genomics, Individualized Medicine and Immune Therapies - in the Middle of a New Era: Prevention and Treatment Strategies for Early Breast Cancer.
Achim Wöckel, Michael P Lux, +17 authors, Hans-Christian Kolberg.
Geburtshilfe Frauenheilkd, 2018 Dec 01; 78(11). PMID: 30498278    Free PMC article.
Differentiating between cancer and normal tissue samples using multi-hit combinations of genetic mutations.
Sajal Dash, Nicholas A Kinney, +3 authors, Ramu Anandakrishnan.
Sci Rep, 2019 Feb 01; 9(1). PMID: 30700767    Free PMC article.
Is breast-conserving therapy adequate in BRCA 1/2 mutation carriers? The radiation oncologist's point of view.
Alexis Vallard, Nicolas Magné, +6 authors, Cyrus Chargari.
Br J Radiol, 2019 Feb 28; 92(1097). PMID: 30810334    Free PMC article.
Review.
Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
Thorkild Terkelsen, Lise-Lotte Christensen, +4 authors, Anne-Bine Skytte.
Fam Cancer, 2019 Aug 23; 18(4). PMID: 31435815
A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.
Li Sun, Adam Brentnall, +15 authors, Ranjit Manchanda.
JAMA Oncol, 2019 Oct 04;. PMID: 31580391    Free PMC article.
BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Anbok Lee, Byung In Moon, Tae Hyun Kim.
Ann Lab Med, 2019 Oct 28; 40(2). PMID: 31650727    Free PMC article.
Review.
Controversial issues in the neoadjuvant treatment of triple-negative breast cancer.
Amanda Fitzpatrick, Andrew Tutt.
Ther Adv Med Oncol, 2019 Nov 09; 11. PMID: 31700549    Free PMC article.
Review.
Subtypes of Breast Cancer in Lao P.D.R.: A Study in a Limited-Resource Setting
Thitsamay Luangxay, Siriphone Virachith, +8 authors, Motoji Sawabe.
Asian Pac J Cancer Prev, 2019 Feb 26; 20(2). PMID: 30806064    Free PMC article.
Breast Cancer in Young Women: Status Quo and Advanced Disease Management by a Predictive, Preventive, and Personalized Approach.
Erik Kudela, Marek Samec, +11 authors, Daniela Trog.
Cancers (Basel), 2019 Nov 20; 11(11). PMID: 31739537    Free PMC article.
Review.
A population-based cohort of young women diagnosed with breast cancer in Geneva, Switzerland.
Robin Schaffar, Christine Bouchardy, +3 authors, Elisabetta Rapiti.
PLoS One, 2019 Sep 07; 14(9). PMID: 31491032    Free PMC article.
Contralateral Prophylactic Mastectomy in Women with Unilateral Breast Cancer Who Are Genetic Carriers, Have a Strong Family History or Are just Young at Presentation.
Victoria Teoh, Marios-Konstantinos Tasoulis, Gerald Gui.
Cancers (Basel), 2020 Jan 16; 12(1). PMID: 31935898    Free PMC article.
Review.
Incidence and Survival Among Young Women With Stage I-III Breast Cancer: SEER 2000-2015.
Alexandra Thomas, Anthony Rhoads, +7 authors, Paul A Romitti.
JNCI Cancer Spectr, 2019 Aug 09; 3(3). PMID: 31392297    Free PMC article.
Outcomes and risk of subsequent breast events in breast-conserving surgery patients with BRCA1 and BRCA2 mutation.
Fugui Ye, Liang Huang, +4 authors, Ayong Cao.
Cancer Med, 2020 Jan 09; 9(5). PMID: 31912664    Free PMC article.
Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
Kelly Metcalfe, Henry T Lynch, +8 authors, Steven A Narod.
Br J Cancer, 2019 Feb 07; 120(4). PMID: 30723304    Free PMC article.
Estimating the number of genetic mutations (hits) required for carcinogenesis based on the distribution of somatic mutations.
Ramu Anandakrishnan, Robin T Varghese, Nicholas A Kinney, Harold R Garner.
PLoS Comput Biol, 2019 Mar 08; 15(3). PMID: 30845172    Free PMC article.
Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer.
Allison W Kurian, Kevin C Ward, +5 authors, Steven J Katz.
JAMA Oncol, 2020 Feb 07; 6(4). PMID: 32027353    Free PMC article.
Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study).
Kate Packwood, Guy Martland, +12 authors, Diana M Eccles.
J Pathol Clin Res, 2019 May 02; 5(3). PMID: 31041842    Free PMC article.
Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil.
Maria Isabel Achatz, Maira Caleffi, +3 authors, Patricia Ashton-Prolla.
JCO Glob Oncol, 2020 Mar 11; 6. PMID: 32155091    Free PMC article.
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
Alan D McCrorie, Susannah Ashfield, +10 authors, Stuart A McIntosh.
J Pathol Clin Res, 2020 Feb 06; 6(2). PMID: 32022473    Free PMC article.
Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis.
Katarzyna Pogoda, Anna Niwińska, +4 authors, Zbigniew Nowecki.
J Oncol, 2020 Apr 24; 2020. PMID: 32322271    Free PMC article.
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
Solene De Talhouet, Julien Peron, +14 authors, S Intidhar Labidi-Galy.
Sci Rep, 2020 Apr 29; 10(1). PMID: 32341426    Free PMC article.
Clinicopathological analysis of early-stage breast cancer patients that meet indications for BRCA1/2 genetic testing.
Hongyu Xiang, Ling Xin, +7 authors, Ling Xu.
Chin J Cancer Res, 2020 May 16; 32(2). PMID: 32410794    Free PMC article.
Mortality After Breast Cancer Among Survivors of Childhood Cancer: A Report From the Childhood Cancer Survivor Study.
Chaya S Moskowitz, Joanne F Chou, +13 authors, Tara O Henderson.
J Clin Oncol, 2019 Jul 02; 37(24). PMID: 31260644    Free PMC article.
Survival and disease characteristics of de novo versus recurrent metastatic breast cancer in a cohort of young patients.
Hayley S McKenzie, Tom Maishman, +4 authors, Ellen Copson.
Br J Cancer, 2020 Apr 02; 122(11). PMID: 32231292    Free PMC article.
Hormone Receptor-Positive/Human Epidermal Growth Receptor 2-Negative Metastatic Breast Cancer in Young Women: Emerging Data in the Era of Molecularly Targeted Agents.
Ami N Shah, Otto Metzger, +3 authors, Massimo Cristofanilli.
Oncologist, 2020 Mar 17; 25(6). PMID: 32176406    Free PMC article.
BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy.
Angela Toss, Eleonora Molinaro, +11 authors, Laura Cortesi.
Cancers (Basel), 2020 May 21; 12(5). PMID: 32429297    Free PMC article.
HRness in Breast and Ovarian Cancers.
Elizabeth Santana Dos Santos, François Lallemand, +2 authors, Etienne Rouleau.
Int J Mol Sci, 2020 Jun 03; 21(11). PMID: 32481735    Free PMC article.
Review.
A comparison between young and old patients with triple-negative breast cancer: biology, survival and metastatic patterns.
Anna-Karin Tzikas, Szilard Nemes, Barbro K Linderholm.
Breast Cancer Res Treat, 2020 Jun 12; 182(3). PMID: 32524352    Free PMC article.
Current State of the Art in the Adjuvant Systemic Treatment of Premenopausal Patients With Early Breast Cancer.
Francesca Parisi, Maria Grazia Razeti, +7 authors, Matteo Lambertini.
Clin Med Insights Oncol, 2020 Jul 11; 14. PMID: 32647477    Free PMC article.
ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data.
Nalee Kim, Se Hoon Kim, +5 authors, Jong Hee Chang.
Radiat Oncol, 2020 Aug 02; 15(1). PMID: 32736562    Free PMC article.
Optimal Systemic Treatment for Early Triple-Negative Breast Cancer.
Jenny Furlanetto, Sibylle Loibl.
Breast Care (Basel), 2020 Aug 11; 15(3). PMID: 32774215    Free PMC article.
Review.
Update on fertility preservation for younger women with breast cancer.
Ellen Warner, Karen Glass, Shu Foong, Emily Sandwith.
CMAJ, 2020 Sep 02; 192(35). PMID: 32868272    Free PMC article.
Review.
Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
Stephanie L Greville-Heygate, Tom Maishman, +6 authors, Diana M Eccles.
JCO Precis Oncol, 2020 Sep 15; 4. PMID: 32923877    Free PMC article.
Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.
Joaira Bakkach, Mohamed Mansouri, +7 authors, Mohcine Bennani Mechita.
BMC Cancer, 2020 Sep 08; 20(1). PMID: 32894085    Free PMC article.
Identification of Somatically Acquired BRCA1/2 Mutations by cfDNA Analysis in Patients with Metastatic Breast Cancer.
Neelima Vidula, Taronish Dubash, +26 authors, Aditya Bardia.
Clin Cancer Res, 2020 Jun 24; 26(18). PMID: 32571788    Free PMC article.
Burning Questions in the Oncofertility Counseling of Young Breast Cancer Patients.
Luca Arecco, Marta Perachino, +10 authors, Matteo Lambertini.
Breast Cancer (Auckl), 2020 Sep 22; 14. PMID: 32952399    Free PMC article.
Review.
Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer.
Taru A Muranen, Sofia Khan, +41 authors, Heli Nevanlinna.
NPJ Breast Cancer, 2020 Sep 24; 6. PMID: 32964118    Free PMC article.
Targeting BRCA Deficiency in Breast Cancer: What are the Clinical Evidences and the Next Perspectives?
Emanuel Nicolas, François Bertucci, Renaud Sabatier, Anthony Gonçalves.
Cancers (Basel), 2018 Dec 14; 10(12). PMID: 30544963    Free PMC article.
Review.
Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
Angela Toss, Marta Venturelli, +12 authors, Laura Cortesi.
Cancers (Basel), 2019 Feb 10; 11(2). PMID: 30736435    Free PMC article.
Women's cancers: how the discovery of BRCA genes is driving current concepts of cancer biology and therapeutics.
Pooja Murthy, Franco Muggia.
Ecancermedicalscience, 2019 Mar 28; 13. PMID: 30915162    Free PMC article.
Review.
Final Results of the Prospective FH02 Mammographic Surveillance Study of Women Aged 35-39 at Increased Familial Risk of Breast Cancer.
D G Evans, S Thomas, +13 authors, S Duffy.
EClinicalMedicine, 2019 Apr 23; 7. PMID: 31008449    Free PMC article.
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.
Michal Vocka, Martina Zimovjanova, +23 authors, Zdenek Kleibl.
Cancers (Basel), 2019 May 31; 11(6). PMID: 31141992    Free PMC article.
BRCA Genes: The Role in Genome Stability, Cancer Stemness and Therapy Resistance.
Ielizaveta Gorodetska, Iryna Kozeretska, Anna Dubrovska.
J Cancer, 2019 Jun 18; 10(9). PMID: 31205572    Free PMC article.
Review.
Impact of Taxanes, Endocrine Therapy, and Deleterious Germline BRCA Mutations on Anti-müllerian Hormone Levels in Early Breast Cancer Patients Treated With Anthracycline- and Cyclophosphamide-Based Chemotherapy.
Matteo Lambertini, Nathalie Olympios, +8 authors, Florian Clatot.
Front Oncol, 2019 Jul 30; 9. PMID: 31355134    Free PMC article.
Poly (ADP-ribose) polymerase inhibitor exposure reduces ovarian reserve followed by dysfunction in granulosa cells.
Kentaro Nakamura, Seido Takae, +3 authors, Nao Suzuki.
Sci Rep, 2020 Oct 15; 10(1). PMID: 33051529    Free PMC article.
Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.
Peng Sun, Yue Li, +4 authors, Jiehua He.
BMC Cancer, 2020 Oct 16; 20(1). PMID: 33054725    Free PMC article.
Germline BRCA Mutation and Clinical Outcomes in Breast Cancer Patients Focusing on Survival and Failure Patterns: A Long-Term Follow-Up Study of Koreans.
Hakyoung Kim, Doo Ho Choi, Won Park.
Medicina (Kaunas), 2020 Oct 07; 56(10). PMID: 33019612    Free PMC article.
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Katherine Dixon, Sean Young, +26 authors, Kasmintan A Schrader.
JNCI Cancer Spectr, 2020 Nov 03; 4(5). PMID: 33134827    Free PMC article.
Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.
Xin Huang, Di Shao, +9 authors, Qiang Sun.
Front Oncol, 2020 Nov 17; 10. PMID: 33194720    Free PMC article.
Screening of germline mutations in young Rwandan patients with breast cancers.
Jeanne P Uyisenga, Karin Segers, +6 authors, Vincent Bours.
Mol Genet Genomic Med, 2020 Sep 23; 8(11). PMID: 32959997    Free PMC article.
Update Breast Cancer 2019 Part 3 - Current Developments in Early Breast Cancer: Review and Critical Assessment by an International Expert Panel.
Hans-Christian Kolberg, Andreas Schneeweiss, +18 authors, Sara Y Brucker.
Geburtshilfe Frauenheilkd, 2019 Jun 01; 79(5). PMID: 31148847    Free PMC article.
Diagnosis and Therapy of Triple-Negative Breast Cancer (TNBC) - Recommendations for Daily Routine Practice.
Andreas Schneeweiss, Carsten Denkert, +5 authors, Hans-Joachim Lück.
Geburtshilfe Frauenheilkd, 2019 Jun 21; 79(6). PMID: 31217629    Free PMC article.
Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status.
Elinborg J Olafsdottir, Ake Borg, +17 authors, Laufey Tryggvadottir.
Br J Cancer, 2020 Sep 18; 123(11). PMID: 32939053    Free PMC article.
Platinum-Based Neoadjuvant Chemotherapy for Breast Cancer With BRCA Mutations: A Meta-Analysis.
Chang-Jun Wang, Ying Xu, +8 authors, Cheng-Gang Li.
Front Oncol, 2020 Dec 12; 10. PMID: 33304851    Free PMC article.
Systematic Review.
Impact of BRCA Mutation Status on Tumor Infiltrating Lymphocytes (TILs), Response to Treatment, and Prognosis in Breast Cancer Patients Treated with Neoadjuvant Chemotherapy.
Beatriz Grandal, Clémence Evrevin, +17 authors, Anne-Sophie Hamy.
Cancers (Basel), 2020 Dec 12; 12(12). PMID: 33302444    Free PMC article.
BRCA testing and outcomes in women with breast cancer.
David D Stenehjem, Claire Telford, +13 authors, Joseph E Biskupiak.
Breast Cancer Res Treat, 2021 Jan 04; 186(3). PMID: 33389410
Insights Into the Impacts of BRCA Mutations on Clinicopathology and Management of Early-Onset Triple-Negative Breast Cancer.
Fugui Ye, Min He, +5 authors, Ayong Cao.
Front Oncol, 2021 Jan 29; 10. PMID: 33505905    Free PMC article.
The Angelina Jolie effect: Contralateral risk-reducing mastectomy trends in patients at increased risk of breast cancer.
Narendra Nath Basu, James Hodson, +13 authors, D Gareth Evans.
Sci Rep, 2021 Feb 04; 11(1). PMID: 33531640    Free PMC article.
Association between BRCA mutational status and survival in patients with breast cancer: a systematic review and meta-analysis.
Miao Liu, Fei Xie, +2 authors, Shu Wang.
Breast Cancer Res Treat, 2021 Feb 10; 186(3). PMID: 33559780
Review.
Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants.
Matteo Lambertini, Marcello Ceppi, +36 authors, Hatem A Azim.
NPJ Breast Cancer, 2021 Feb 14; 7(1). PMID: 33579978    Free PMC article.
A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.
Yunpeng Sui, Shuanghong Peng.
Front Cell Dev Biol, 2021 Mar 02; 9. PMID: 33644055    Free PMC article.
A clinical calculator to predict disease outcomes in women with triple-negative breast cancer.
Mei-Yin C Polley, Roberto A Leon-Ferre, +17 authors, Matthew P Goetz.
Breast Cancer Res Treat, 2021 Jan 04; 185(3). PMID: 33389409    Free PMC article.
Review.
Recent Advances in Integrative Multi-Omics Research in Breast and Ovarian Cancer.
Christen A Khella, Gaurav A Mehta, Rushabh N Mehta, Michael L Gatza.
J Pers Med, 2021 Mar 07; 11(2). PMID: 33669749    Free PMC article.
Review.
Clinical and Pathological Characteristics of Patients with High-Risk Breast Cancer Based on BRCA Mutation Profiles: A Retrospective Study.
Muhammed Mustafa Atcı, Çağlayan Geredeli, +9 authors, Mahmut Gümüş.
Eur J Breast Health, 2021 Apr 20; 17(2). PMID: 33870111    Free PMC article.
A Review of Modifiable Risk Factors in Young Women for the Prevention of Breast Cancer.
Alex A Daly, Rachel Rolph, Ramsey I Cutress, Ellen R Copson.
Breast Cancer (Dove Med Press), 2021 Apr 23; 13. PMID: 33883932    Free PMC article.
Review.
Introducing a low-risk breast screening pathway into the NHS Breast Screening Programme: Views from healthcare professionals who are delivering risk-stratified screening.
Victoria G Woof, Lorna McWilliams, +4 authors, David P French.
Womens Health (Lond), 2021 Apr 21; 17. PMID: 33877937    Free PMC article.
Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?
Grazia Lazzari, Giuseppe Buono, Benedetto Zannino, Giovanni Silvano.
Breast Cancer (Dove Med Press), 2021 May 21; 13. PMID: 34012291    Free PMC article.
Review.
Triple-negative breast cancer: promising prognostic biomarkers currently in development.
Jasmine Sukumar, Kelly Gast, +2 authors, Nicole Williams.
Expert Rev Anticancer Ther, 2020 Nov 18; 21(2). PMID: 33198517    Free PMC article.
Breast-Gynaecological & Immuno-Oncology International Cancer Conference (BGICC) Consensus and Recommendations for the Management of Triple-Negative Breast Cancer.
Hesham Elghazaly, Hope S Rugo, +36 authors, Hagar Elghazawy.
Cancers (Basel), 2021 Jun 03; 13(9). PMID: 34066769    Free PMC article.
Mesothelioma: Scientific clues for prevention, diagnosis, and therapy.
Michele Carbone, Prasad S Adusumilli, +19 authors, Harvey I Pass.
CA Cancer J Clin, 2019 Jul 10; 69(5). PMID: 31283845    Free PMC article.
Highly Cited. Review.