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Most cited papers in BRCA gene mutations in cancer

What are the most cited papers in BRCA gene mutations in cancer?

The most cited paper in BRCA gene mutations in cancer is "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology" (Sue M. Richards, Nazneen Aziz, Sherri J. Bale et al., 2015), with 33,443 citations. Next come "A Gene-Expression Signature as a Predictor of Survival in Breast Cancer" (6,562) and "A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1" (6,134).

Showing 50 of 100 papers. Every paper with more than 1,372 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Sue M. Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine Open access 5 Mar 2015 33,443
2 A Gene-Expression Signature as a Predictor of Survival in Breast Cancer Marc J. van de Vijver et al. · New England Journal of Medicine Open access 18 Dec 2002 6,562
3 A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1 Yoshio Miki et al. · Science 7 Oct 1994 6,134
4 Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study Natalie C. Lippa, Saskia C. Sanderson · Human Heredity 2013 6,093
5 Tamoxifen for Prevention of Breast Cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study Bernard Fisher, Joseph P. Costantino, Donald Lawrence Wickerham et al. · JNCI Journal of the National Cancer Institute Open access 16 Sep 1998 5,532
6 The Future of Genetic Studies of Complex Human Diseases NEIL J. RISCH, Kathleen Ries Merikangas · Science 13 Sep 1996 5,416
7 Mendelian randomization: genetic anchors for causal inference in epidemiological studies George Davey Smith, Gibran Hemani · Human Molecular Genetics Open access 4 Jul 2014 5,184
8 Supervised Risk Predictor of Breast Cancer Based on Intrinsic Subtypes Joel S. Parker, Michael Eugene Mullins, Maggie C.U. Cheang et al. · Journal of Clinical Oncology Open access 9 Feb 2009 4,974
9 Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians Neil M Davies, Michael Vaclav Holmes, George Davey Smith · BMJ Open access 12 Jul 2018 4,815
10 FinnGen provides genetic insights from a well-phenotyped isolated population Mitja Kurki et al. · Nature Open access169 authors 18 Jan 2023 4,362
11 Environmental and Heritable Factors in the Causation of Cancer — Analyses of Cohorts of Twins from Sweden, Denmark, and Finland Paul Lichtenstein, Niels Vilstrup Holm, Pia K. Verkasalo et al. · New England Journal of Medicine 13 Jul 2000 4,168
12 Cancer Statistics, 2004 Ahmedin Jemal, Ram Chandra Tiwari, Thomas S. Murray et al. · CA A Cancer Journal for Clinicians Open access 2004 4,007
13 Mendelian Randomization Connor A. Emdin, Amit V. Khera, Sekar Kathiresan · JAMA 21 Nov 2017 3,930
14 Ovarian cancer statistics, 2018 Lindsey A. Torre, Britton L. Trabert, Carol E. Desantis et al. · CA A Cancer Journal for Clinicians Open access 29 May 2018 3,756
15 Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies Antonis C. Antoniou et al. · The American Journal of Human Genetics Open access 23 Apr 2003 3,727
16 Identification of the breast cancer susceptibility gene BRCA2 Richard Wooster et al. · Nature Dec 1995 3,687
17 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression eQTLGen et al. · Nature Genetics Open access218 authors 26 Apr 2018 3,347
18 Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation Mark E. Robson, Seock‐Ah Im, Elżbieta Senkus et al. · New England Journal of Medicine Open access 4 Jun 2017 3,322
19 Cancer Statistics, 2003 Ahmedin Jemal, Thomas S. Murray, Alicia Samuels et al. · CA A Cancer Journal for Clinicians Open access 2003 3,300
20 Integrated Genomic Characterization of Papillary Thyroid Carcinoma Nishant Agrawal et al. · Cell Open access243 authors Oct 2014 3,142
21 Relevance of breast cancer hormone receptors and other factors to the efficacy of adjuvant tamoxifen: patient-level meta-analysis of randomised trials Early Breast Cancer Trialists' Collaborative Group (EBCTCG) · The Lancet ReviewOpen access Aug 2011 3,114
22 Clinical use of current polygenic risk scores may exacerbate health disparities Alicia R. Martin, Masahiro Kanai, Yoichiro Kamatani et al. · Nature Genetics Open access 29 Mar 2019 3,090
23 Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families Deborah Ford et al. · The American Journal of Human Genetics Open access Mar 1998 3,057
24 Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers Karoline B. Kuchenbaecker et al. · JAMA Open access 20 Jun 2017 2,963
25 Cancer Statistics, 2002 Ahmedin Jemal, Anish Thomas, Thomas S. Murray et al. · CA A Cancer Journal for Clinicians Open access 2002 2,930
26 Detection and localization of surgically resectable cancers with a multi-analyte blood test Joshua David Cohen et al. · Science Open access 18 Jan 2018 2,879
27 Gene-expression profiles to predict distant metastasis of lymph-node-negative primary breast cancer Yixin Wang, Jan G.M. Klijn, Yi Zhang et al. · The Lancet Feb 2005 2,723
28 Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies Mike A. Nalls et al. · The Lancet Neurology ReviewOpen access270 authors 6 Nov 2019 2,611
29 Gene Expression and Benefit of Chemotherapy in Women With Node-Negative, Estrogen Receptor–Positive Breast Cancer Soonmyung Paik, Gong Tang, Steven Shak et al. · Journal of Clinical Oncology 23 May 2006 2,599
30 Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21 Jeff Hall, Ming K. Lee, Beth M Newman et al. · Science 21 Dec 1990 2,561
31 COSMIC: exploring the world's knowledge of somatic mutations in human cancer Simon Andrew Forbes, David M. Beare, Prasad Gunasekaran et al. · Nucleic Acids Research Open access 29 Oct 2014 2,416
32 Genome-wide association study identifies novel breast cancer susceptibility loci Douglas F. Easton et al. · Nature Open access239 authors 27 May 2007 2,342
33 Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial M. William Audeh, James Carmichael, Richard T. Penson et al. · The Lancet Jul 2010 2,298
34 Rate of de novo mutations and the importance of father’s age to disease risk Augustine Kong et al. · Nature Open access Aug 2012 2,298
35 The Risk of Cancer Associated with Specific Mutations ofBRCA1andBRCA2among Ashkenazi Jews Jeffery P. Struewing, Patricia A. Hartge, Sholom Wacholder et al. · New England Journal of Medicine Open access 15 May 1997 2,267
36 Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 Mary‐Claire King, Joan H. Marks, Jessica B. Mandell · Science 23 Oct 2003 2,248
37 Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation Jennifer Keating Litton, Hope S. Rugo, Johannes Ettl et al. · New England Journal of Medicine Open access 15 Aug 2018 2,198
38 Cancer of the Ovary Stephen A. Cannistra · New England Journal of Medicine 9 Dec 2004 2,166
39 Descriptive analysis of estrogen receptor (ER)‐negative, progesterone receptor (PR)‐negative, and HER2‐negative invasive breast cancer, the so‐called triple‐negative phenotype Katrina R. Bauer, Monica M. Brown, Rosemary Donaldson Cress et al. · Cancer 26 Mar 2007 2,107
40 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer Fátima Cardoso et al. · New England Journal of Medicine Open access 24 Aug 2016 2,097
41 Diagnostic Interview for Genetic Studies John I. Nürnberger · Archives of General Psychiatry Nov 1994 2,084
42 Pan-cancer patterns of somatic copy number alteration Travis Ian Zack, Steven E. Schumacher, Scott L. Carter et al. · Nature Genetics Open access 26 Sep 2013 2,072
43 Genomics is failing on diversity Alice B. Popejoy, Stephanie Malia Fullerton · Nature Open access 10 Oct 2016 2,069
44 Long-term effects of continuing adjuvant tamoxifen to 10 years versus stopping at 5 years after diagnosis of oestrogen receptor-positive breast cancer: ATLAS, a randomised trial Christina Davies et al. · The Lancet Open access 5 Dec 2012 2,067
45 Variation in cancer risk among tissues can be explained by the number of stem cell divisions Cristian Tomasetti, Bert Vogelstein · Science Open access 2015 2,006
46 Epithelial ovarian cancer Stéphanie Lheureux, Charlie Gourley, Ignace B. Vergote et al. · The Lancet Open access Mar 2019 2,002
47 European consensus for the management of patients with differentiated thyroid carcinoma of the follicular epithelium Furio Pacini, Martin Jean Schlumberger, Henning Dralle et al. · European Journal of Endocrinology 25 May 2006 1,986
48 The Path to Personalized Medicine Margaret A. Hamburg, Francis S. Collins · New England Journal of Medicine Open access 15 Jun 2010 1,965
49 Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants Brandon L. Pierce, Habibul Ahsan, Tyler J. VanderWeele · International Journal of Epidemiology Open access 2 Sep 2010 1,955
50 Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study Michelle Landon, Jennifer R. Saam, Krystal L. Brown et al. · Oncology Open access 2015 1,942

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.