BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry-Reference-Cited by-同舟云学术

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

Published:2019-07-03 Issue:10 Volume:40 Page:1781-1796
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Friebel Tara M.¹²,Andrulis Irene L.³⁴,Balmaña Judith⁵,Blanco Amie M.⁶,Couch Fergus J.⁷,Daly Mary B.⁸,Domchek Susan M.⁹^ORCID,Easton Douglas F.¹⁰¹¹,Foulkes William D.¹²^ORCID,Ganz Patricia A.¹³,Garber Judy¹⁴,Glendon Gord³,Greene Mark H.¹⁵,Hulick Peter J.¹⁶¹⁷,Isaacs Claudine¹⁸,Jankowitz Rachel C.¹⁹,Karlan Beth Y.²⁰,Kirk Judy²¹,Kwong Ava²²²³²⁴,Lee Annette²⁵,Lesueur Fabienne²⁶²⁷²⁸²⁹,Lu Karen H.³⁰,Nathanson Katherine L.⁹,Neuhausen Susan L.³¹,Offit Kenneth³²³³,Palmero Edenir I.³⁴³⁵,Sharma Priyanka³⁶,Tischkowitz Marc¹²³⁷,Toland Amanda E.³⁸^ORCID,Tung Nadine³⁹,Rensburg Elizabeth J.⁴⁰,Vega Ana⁴¹⁴²⁴³^ORCID,Weitzel Jeffrey N.⁴⁴,Collaborators GEMO Study²⁷,Hoskins Kent F.⁴⁵,Maga Tara⁴⁵,Parsons Michael T.⁴⁶^ORCID,McGuffog Lesley¹¹,Antoniou Antonis C.¹¹,Chenevix‐Trench Georgia⁴⁶,Huo Dezheng⁴⁷,Olopade Olufunmilayo I.⁴⁷,Rebbeck Timothy R.¹²^ORCID

Affiliation:

1. Harvard T.H. Chan School of Public Health Boston Massachusetts

2. Dana‐Farber Cancer Institute Boston Massachusetts

3. Fred A. Litwin Center for Cancer GeneticsLunenfeld‐Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada

4. Department of Molecular GeneticsUniversity of Toronto Toronto Ontario Canada

5. High Risk and Cancer Prevention Group, Vall d'Hebron Institute of OncologyUniversity Hospital Vall d'Hebron Barcelona Spain

6. Cancer Genetics and Prevention ProgramUniversity of California San Francisco San Francisco California

7. Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota

8. Department of Clinical GeneticsFox Chase Cancer Center Philadelphia Pennsylvania

9. Department of Medicine, Abramson Cancer CenterPerelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania

10. Department of Oncology, Centre for Cancer Genetic EpidemiologyUniversity of Cambridge Cambridge UK

11. Department of Public Health and Primary Care, Centre for Cancer Genetic EpidemiologyUniversity of Cambridge Cambridge UK

12. Departments of Human Genetics and Oncology, Program in Cancer GeneticsMcGill University Montréal Quebec Canada

13. Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer CentreSchools of Medicine and Public Health, UCLA Los Angeles California

14. Cancer Risk and Prevention ClinicDana‐Farber Cancer Institute Boston Massachusetts

15. Division of Cancer Epidemiology and Genetics, Clinical Genetics BranchNational Cancer Institute Bethesda Maryland

16. Center for Medical GeneticsNorthShore University HealthSystem Evanston Illinois

17. The University of Chicago Pritzker School of Medicine Chicago Illinois

18. Lombardi Comprehensive Cancer CenterGeorgetown University Washington District of Columbia

19. Division of Hematology/Oncology, Department of Medicine, UPMC Hillman Cancer CenterUniversity of Pittsburgh School of Medicine Pittsburgh Pennsylvania

20. Cedars‐Sinai Medical CenterWomens Cancer Program at the Samuel Oschin Comprehensive Cancer Institute Los Angeles California

21. Familial Cancer ServiceWeatmead Hospital Wentworthville New South Wales Australia

22. Cancer Genetics CentreHong Kong Hereditary Breast Cancer Family Registry Happy Valley Hong Kong China

23. Department of SurgeryThe University of Hong Kong Pok Fu Lam Hong Kong China

24. Department of SurgeryHong Kong Sanatorium and Hospital Happy Valley Hong Kong China

25. The Feinstein Institute for Medical Research Manhasset New York

26. Genetic Epidemiology of Cancer teamInserm Paris France

27. Service de GénétiqueInstitut Curie Paris France

28. Institut Curie Paris France

29. Mines ParisTech Fontainebleau France

30. Department of Gynecologic Oncology and Clinical Cancer Genetics ProgramUniversity of Texas MD Anderson Cancer Center Houston Texas

31. Department of Population SciencesBeckman Research Institute of City of Hop Duarte California

32. Department of Cancer Biology and Genetics, Clinical Genetics Research LabMemorial Sloan‐Kettering Cancer Center New York New York

33. Department of Medicine, Clinical Genetics ServiceMemorial Sloan‐Kettering Cancer Center New York New York

34. Molecular Oncology Research CenterBarretos Cancer Hospital São Paulo Brazil

35. Barretos School of Health SciencesDr. Paulo Prata—FACISB São Paulo Brazil

36. Division of Oncology, Department of Internal MedicineUniversity of Kansas Medical Center Westwood Kansas

37. Department of Medical Genetics, Addenbrookes Treatment Centre, Addenbrookes HosptitalUniversity of Cambridge Cambridge UK

38. Department of Cancer Biology and GeneticsThe Ohio State University Columbus Ohio

39. Department of Medical OncologyBeth Israel Deaconess Medical Center Boston Massachusetts

40. Department of GeneticsUniversity of Pretoria Arcadia South Africa

41. Fundación Pública Galega Medicina Xenómica Santiago De Compostela Spain

42. Instituto de Investigación Sanitaria de Santiago de Compostela Santiago De Compostela Spain

43. Biomedical Network on Rare Diseases (CIBERER) Madrid Spain

44. Clinical Cancer GeneticsCity of Hope Duarte California

45. Department of MedicineUniversity of Illinois Chicago Illinois

46. Department of Genetics and Computational BiologyQIMR Berghofer Medical Research Institute Brisbane Queensland Australia

47. Center for Clinical Cancer GeneticsThe University of Chicago Chicago Illinois

Funder

Institut National Du Cancer

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23804

Reference69 articles.

1. The spectrum ofBRCA1andBRCA2mutations in breast cancer patients in the Bahamas

2. American Cancer Society(2016).Cancer Facts & Figures for African Americans 2016‐2018. Retrieved from Atlanta GA.

3. Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

4. Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

5. Arena J. Baumbach L. Smith S. Gayol L. Perera E. &Lubs H.(1998). BRCA1 mutation analysis in 20 at‐risk African‐American families supports a low frequency of germ‐line mutation.American Journal of Human Genetics(A62) 325.

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