Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
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Olufunmilayo I. Olopade | Mads Thomassen | Dieter Niederacher | Nandita Mitra | Ute Hamann | Gord Glendon | Katarzyna Jaworska-Bieniek | Katarzyna Durda | Soo-Hwang Teo | Shan Wang-Gohrke | Antonis C. Antoniou | Lesley McGuffog | Daniel Barrowdale | Susan M. Domchek | Mary Beth Terry | Timothy R. Rebbeck | Christian F. Singer | Kenneth Offit | Susan J. Ramus | Caroline Seynaeve | Ava Kwong | Douglas Easton | Heli Nevanlinna | Georgia Chenevix-Trench | Javier Benitez | Jacques Simard | Paolo Radice | Anna Jakubowska | Jan Lubinski | Robert L. Nussbaum | Mary B. Daly | Fergus J. Couch | Marc Tischkowitz | Dominique Stoppa-Lyonnet | Patricia A. Ganz | Marco Montagna | Jenny Lester | Penny Soucy | Susan L. Neuhausen | Miguel de la Hoya | Orland Diez | Fei Wan | Cezary Cybulski | Andrew K. Godwin | Jeffrey N. Weitzel | Gillian Mitchell | Edith Olah | Eric Hahnen | Debra Frost | Evgeny N. Imyanitov | Conxi Lazaro | R. Nussbaum | F. Couch | O. Olopade | T. Rebbeck | B. Karlan | J. Benítez | E. John | M. Southey | D. Easton | M. Greene | K. Offit | A. Antoniou | Å. Borg | N. Loman | S. Buys | R. Berger | D. Evans | G. Chenevix-Trench | H. Nevanlinna | U. Hamann | C. Lázaro | K. Nathanson | J. Garber | C. Isaacs | I. Andrulis | G. Glendon | P. Radice | S. Manoukian | C. Seynaeve | A. Jakubowska | J. Lubiński | K. Durda | A. Toland | S. Teo | J. Simard | S. Neuhausen | S. Wang-gohrke | L. Forétova | L. McGuffog | A. Godwin | E. Friedman | N. Tung | E. Imyanitov | P. Ganz | B. Wappenschmidt | S. Domchek | D. Stoppa-Lyonnet | Sue-Kyung Park | D. Frost | C. Singer | C. Szabo | K. Claes | B. Arun | O. Díez | E. Hahnen | N. Mitra | F. Wan | M. Daly | J. Zidan | B. Kaufman | M. Thomassen | J. Lester | C. Cybulski | M. Teixeira | J. Weitzel | C. Lasset | P. Berthet | M. Tischkowitz | J. Chiquette | M. Terry | J. Gronwald | M. Rookus | E. Oláh | P. Soucy | D. Barrowdale | M. Piedmonte | T. V. Hansen | M. Montagna | T. Caldés | E. J. van Rensburg | S. Ramus | R. Janavicius | A. Kwong | S. Ellis | N. Arnold | D. Niederacher | Y. Laitman | M. de la Hoya | L. Tihomirova | T. Friebel | M. Hoya | G. Sukiennicki | G. Mitchell | K. Zorn | Beth Y. Karlan | Irene L. Andrulis | Emily Hallberg | Siranoush Manoukian | Barbara Wappenschmidt | Banu K. Arun | Judy Garber | Esther M. John | Matti A. Rookus | Csilla I. Szabo | Steve Ellis | A. Tołoczko‐Grabarek | Pascaline Berthet | Christine Lasset | Katherine L. Nathanson | Lenka Foretova | Jacek Gronwald | Danylo Villano | Niklas Loman | Bella Kaufman | Mariella Tancredi | Sue Kyung Park | Norbert Arnold | D. Gareth Evans | Saundra S. Buys | Ake Borg | Claudine Isaacs | Manuel R. Teixeira | Jocelyne Chiquette | Eitan Friedman | Ramunas Janavicius | Yael Laitman | Christine Rappaport-Fuerhauser | Grzegorz Sukiennicki | Laima Tihomirova | Nadine Tung | Melissa Southey | Raanan Berger | Marion Piedmonte | Amanda Ewart Toland | Trinidad Caldes | Mark H. Greene | Aleksandra Toloczko-Grabarek | M. Tancredi | Elizabeth J. van Rensburg | Thomas V. O. Hansen | Paraskevi Apostolou | Jamal Zidan | Jonathan Carter | Kristin K. Zorn | Tara M. Friebel | Stephanie Chen | Kathleen B. M. Claes | KConFab investigators | D. Villano | Stephanie Chen | P. Apostolou | Emily J. Hallberg | C. Rappaport-Fuerhauser | E. Hallberg | Katarzyna Jaworska–Bieniek | kConFab investigators | J. Carter | L. Foretova | D. Evans | Paraskevi Apostolou | D. Evans | Steve Ellis | D. Evans | Eitan Friedman | M. Teixeira | D. Evans | Gillian Mitchell | E. Rensburg
[1] L. Solis,et al. Promoter hypermethylation of BRCA1 correlates with absence of expression in hereditary breast cancer tumors , 2008, Epigenetics.
[2] J. Jónasson,et al. Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer , 2006, Breast Cancer Research.
[3] I. Jacobs,et al. BRCA1 and BRCA2 Mutation Prevalence and Clinical Characteristics of a Population-Based Series of Ovarian Cancer Cases from Denmark , 2008, Clinical Cancer Research.
[4] G. Tsongalis,et al. Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient. , 1998, Archives of pathology & laboratory medicine.
[5] S. Narod,et al. A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. , 1998, American journal of human genetics.
[6] I. Jacobs,et al. Genetic intra‐tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours , 2007, The Journal of pathology.
[7] B. Ponder,et al. A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2 , 1997, Nature Genetics.
[8] D. Sgroi,et al. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2. , 2002, Cancer research.
[9] J. Chang-Claude,et al. High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families , 1995 .
[10] K. A. Gelmon. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial , 2011 .
[11] S. Seal,et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. , 1994, Science.
[12] S. Cascio,et al. Founder mutations in BRCA1 and BRCA2 genes. , 2007, Annals of oncology : official journal of the European Society for Medical Oncology.
[13] J. Gudmundsson,et al. Different tumor types from BRCA2 carriers show wild-type chromosome deletions on 13q12-q13. , 1995, Cancer research.
[14] Rosalind Eeles,et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. , 2010, JAMA.
[15] Funda Meric-Bernstam,et al. Heterogenic Loss of BRCA in Breast Cancer: The “Two-Hit” Hypothesis Takes a Hit , 2007, Annals of Surgical Oncology.
[16] B. Ponder,et al. High allele loss rates at 17q12-q21 in breast and ovarian tumors from BRCAl-linked families. The Breast Cancer Linkage Consortium. , 1995, Genes, chromosomes & cancer.
[17] J. Hopper,et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. , 2006, Cancer research.
[18] A. Viel,et al. Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy , 2006, BMC Cancer.
[19] A. Toland,et al. Methylation not a frequent “second hit” in tumors with germline BRCA mutations , 2009, Familial Cancer.
[20] D. Easton,et al. Allele losses in the region 17q12–21 in familial breast and ovarian cancer involve the wild–type chromosome , 1992, Nature Genetics.
[21] J. Boyd,et al. Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient. , 1998, Gynecologic oncology.
[22] Mark Robson,et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial , 2010, The Lancet.
[23] L. Aaltonen,et al. Semiautomated assessment of loss of heterozygosity and replication error in tumors. , 1996, Cancer research.
[24] J. Dungan. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial , 2011 .
[25] F. Couch,et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. , 2004, American journal of human genetics.
[26] M. Fackler,et al. Methylation is less abundant in BRCA1-associated compared with sporadic breast cancer. , 2008, Annals of oncology : official journal of the European Society for Medical Oncology.
[27] P. Radice,et al. Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics , 2010, Breast Cancer Research and Treatment.
[28] Martin Kircher,et al. Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. , 2015, Cancer discovery.
[29] G. Giles,et al. De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. , 1999, American journal of human genetics.
[30] G. Rennert,et al. Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. , 2011, Annals of oncology : official journal of the European Society for Medical Oncology.
[31] M. King,et al. Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2 , 2003, Science.
[32] W. Jonat,et al. Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management , 2012, Breast Cancer Research and Treatment.
[33] K. Choy,et al. Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: A founder mutation of BRCA1 identified in the Chinese population , 2002, Human mutation.
[34] Hans Joenje,et al. Biallelic Inactivation of BRCA2 in Fanconi Anemia , 2002, Science.
[35] Georgia Chenevix-Trench,et al. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) , 2007, Breast Cancer Research.
[36] C. Mathew. Fanconi anaemia genes and susceptibility to cancer , 2006, Oncogene.
[37] Steven E. Bayer,et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. , 1994, Science.
[38] F. Couch,et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. , 2013, Cancer discovery.
[39] F. Collins,et al. Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. , 1995, Clinical cancer research : an official journal of the American Association for Cancer Research.
[40] L. Norton,et al. Heterogenic Loss of the Wild-Type BRCA Allele in Human Breast Tumorigenesis , 2007, Annals of Surgical Oncology.
[41] M. Yaffe,et al. American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography , 2007, CA: a cancer journal for clinicians.
[42] R. Gershoni-baruch,et al. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. , 1998, American journal of human genetics.
[43] D. Easton,et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. , 1995, Oncogene.