Literature DB >> 28439798

The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition.

Anosheh Afghahi1, Allison W Kurian2.   

Abstract

OPINION STATEMENT: The advent of multiple-gene germline panel testing has led to significant advances in hereditary breast and ovarian cancer risk assessment. These include guideline-specific cancer risk management recommendations for patients and their families, such as screening with breast magnetic resonance imaging and risk-reducing surgeries, which have the potential to reduce substantially the morbidity and mortality associated with a hereditary cancer predisposition. However, controversy remains about the clinical validity and actionability of genetic testing in a broader patient population. We discuss events leading to the wider availability of commercialized multiple-gene germline panel testing, the recent data that support using this powerful tool to improve cancer risk assessment and reduction strategies, and remaining challenges to clinical optimization of this new genetic technology.

Entities:  

Keywords:  ATM; BRCA1/2; CHEK2; Hereditary breast and ovarian cancer syndromes; Multiple-gene testing; PALB2; PARP inhibitor therapy

Mesh:

Substances:

Year:  2017        PMID: 28439798     DOI: 10.1007/s11864-017-0468-y

Source DB:  PubMed          Journal:  Curr Treat Options Oncol        ISSN: 1534-6277


  51 in total

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Journal:  Cell Res       Date:  2008-01       Impact factor: 25.617

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3.  Two decades after BRCA: setting paradigms in personalized cancer care and prevention.

Authors:  Fergus J Couch; Katherine L Nathanson; Kenneth Offit
Journal:  Science       Date:  2014-03-28       Impact factor: 47.728

4.  Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

Authors:  Nasim Mavaddat; Susan Peock; Debra Frost; Steve Ellis; Radka Platte; Elena Fineberg; D Gareth Evans; Louise Izatt; Rosalind A Eeles; Julian Adlard; Rosemarie Davidson; Diana Eccles; Trevor Cole; Jackie Cook; Carole Brewer; Marc Tischkowitz; Fiona Douglas; Shirley Hodgson; Lisa Walker; Mary E Porteous; Patrick J Morrison; Lucy E Side; M John Kennedy; Catherine Houghton; Alan Donaldson; Mark T Rogers; Huw Dorkins; Zosia Miedzybrodzka; Helen Gregory; Jacqueline Eason; Julian Barwell; Emma McCann; Alex Murray; Antonis C Antoniou; Douglas F Easton
Journal:  J Natl Cancer Inst       Date:  2013-04-29       Impact factor: 13.506

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Review 6.  Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment.

Authors:  Allison W Kurian; Kerry E Kingham; James M Ford
Journal:  Curr Opin Obstet Gynecol       Date:  2015-02       Impact factor: 1.927

7.  Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Authors:  Nadine Tung; Nancy U Lin; John Kidd; Brian A Allen; Nanda Singh; Richard J Wenstrup; Anne-Renee Hartman; Eric P Winer; Judy E Garber
Journal:  J Clin Oncol       Date:  2016-03-14       Impact factor: 44.544

8.  Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

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Journal:  Eur J Hum Genet       Date:  2014-02-19       Impact factor: 4.246

9.  Gene patents and personalized cancer care: impact of the Myriad case on clinical oncology.

Authors:  Kenneth Offit; Angela Bradbury; Courtney Storm; Jon F Merz; Kevin E Noonan; Rebecca Spence
Journal:  J Clin Oncol       Date:  2013-06-13       Impact factor: 44.544

10.  Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Authors:  Holly LaDuca; A J Stuenkel; Jill S Dolinsky; Steven Keiles; Stephany Tandy; Tina Pesaran; Elaine Chen; Chia-Ling Gau; Erika Palmaer; Kamelia Shoaepour; Divya Shah; Virginia Speare; Stephanie Gandomi; Elizabeth Chao
Journal:  Genet Med       Date:  2014-04-24       Impact factor: 8.822

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  13 in total

1.  The Emergency Medicine Specimen Bank: An Innovative Approach To Biobanking In Acute Care.

Authors:  Jessica L Saben; Shelby K Shelton; Andrew J Hopkinson; Brandon J Sonn; Eleanor B Mills; Makayla Welham; Megan Westmoreland; Richard Zane; Adit A Ginde; Kelly Bookman; Justin Oeth; Mark Chavez; Michael DeVivo; Alison Lakin; John Heldens; Laurie Blumberg Romero; Michael J Ames; Emily R Roberts; Matthew Taylor; Kristy Crooks; Stephen J Wicks; Kathleen C Barnes; Andrew A Monte
Journal:  Acad Emerg Med       Date:  2018-10-25       Impact factor: 3.451

2.  Neutrophil-to-lymphocyte and platelet-to-lymphocyte ratios may aid in identifying patients with non-small cell lung cancer and predicting Tumor-Node-Metastasis stages.

Authors:  Fei Xu; Pengliang Xu; Wenqiang Cui; Weiyi Gong; Ying Wei; Baojun Liu; Jingcheng Dong
Journal:  Oncol Lett       Date:  2018-05-07       Impact factor: 2.967

3.  Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.

Authors:  Shenin A Dettwyler; Erika S Koeppe; Michelle F Jacobs; Elena M Stoffel
Journal:  Fam Cancer       Date:  2021-09-21       Impact factor: 2.446

4.  Prevalence of germline variants in consensus moderate-to-high-risk predisposition genes to hereditary breast and ovarian cancer in BRCA1/2-negative Brazilian patients.

Authors:  Renan Gomes; Pricila da Silva Spinola; Ayslan Castro Brant; Bruna Palma Matta; Caroline Macedo Nascimento; Silvia Maria de Aquino Paes; Cibele Rodrigues Bonvicino; Anna Claudia Evangelista Dos Santos; Miguel Angelo Martins Moreira
Journal:  Breast Cancer Res Treat       Date:  2020-10-30       Impact factor: 4.872

5.  Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.

Authors:  Kara N Maxwell; Brandon M Wenz; Abha Kulkarni; Bradley Wubbenhorst; Kurt D'Andrea; Benita Weathers; Noah Goodman; Joseph Vijai; Jenna Lilyquist; Steven N Hart; Thomas P Slavin; Kasmintan A Schrader; Vignesh Ravichandran; Tinu Thomas; Chunling Hu; Mark E Robson; Paolo Peterlongo; Bernardo Bonanni; James M Ford; Judy E Garber; Susan L Neuhausen; Payal D Shah; Angela R Bradbury; Angela M DeMichele; Kenneth Offit; Jeffrey N Weitzel; Fergus J Couch; Susan M Domchek; Katherine L Nathanson
Journal:  JCO Precis Oncol       Date:  2020-08-19

6.  Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.

Authors:  Margaret Waltz; Anya E R Prince; Julianne M O'Daniel; Ann Katherine M Foreman; Bradford C Powell; Jonathan S Berg
Journal:  J Genet Couns       Date:  2020-01-22       Impact factor: 2.537

7.  The cJUN NH2-terminal kinase (JNK) signaling pathway promotes genome stability and prevents tumor initiation.

Authors:  Nomeda Girnius; Yvonne Jk Edwards; David S Garlick; Roger J Davis
Journal:  Elife       Date:  2018-06-01       Impact factor: 8.140

8.  Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease.

Authors:  Julie V Philley; Kate L Hertweck; Anbarasu Kannan; Barbara A Brown-Elliott; Richard J Wallace; Anna Kurdowska; Harrison Ndetan; Karan P Singh; Edmund J Miller; David E Griffith; Santanu Dasgupta
Journal:  Sci Rep       Date:  2018-07-27       Impact factor: 4.379

9.  Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.

Authors:  Suzette Farber-Katz; Vickie Hsuan; Sitao Wu; Tyler Landrith; Huy Vuong; Dong Xu; Bing Li; Jayne Hoo; Stephanie Lam; Sarah Nashed; Deborah Toppmeyer; Phillip Gray; Ginger Haynes; Hsiao-Mei Lu; Aaron Elliott; Brigette Tippin Davis; Rachid Karam
Journal:  Front Oncol       Date:  2018-07-27       Impact factor: 6.244

10.  Integrating fundamental cause theory and Bourdieu to explain pathways between socioeconomic status and health: the case of health insurance denials for genetic testing.

Authors:  Emily Hammad Mrig
Journal:  Sociol Health Illn       Date:  2020-10-06
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