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

被引：32

作者：

Friebel, Tara M. ^{[1
,2
]}

Andrulis, Irene L. ^{[3
,4
]}

Balmana, Judith ^{[5
]}

Blanco, Amie M. ^{[6
]}

Couch, Fergus J. ^{[7
]}

Daly, Mary B. ^{[8
]}

Domchek, Susan M. ^{[9
]}

Easton, Douglas F. ^{[10
,11
]}

Foulkes, William D. ^{[12
,13
]}

Ganz, Patricia A. ^{[14
,15
]}

Garber, Judy ^{[16
]}

Glendon, Gord ^{[3
]}

Greene, Mark H. ^{[17
]}

Hulick, Peter J. ^{[18
,19
]}

Isaacs, Claudine ^{[20
]}

Jankowitz, Rachel C. ^{[21
]}

Karlan, Beth Y. ^{[22
]}

Kirk, Judy ^{[23
]}

Kwong, Ava ^{[24
,25
,26
]}

Lee, Annette ^{[27
]}

Lesueur, Fabienne ^{[28
,29
,30
,31
]}

Lu, Karen H. ^{[32
,33
]}

Nathanson, Katherine L. ^{[9
]}

Neuhausen, Susan L. ^{[34
]}

Offit, Kenneth ^{[35
,36
]}

Palmero, Edenir I. ^{[37
,38
]}

Sharma, Priyanka ^{[39
]}

Tischkowitz, Marc ^{[12
,13
,40
]}

Toland, Amanda E. ^{[41
]}

Tung, Nadine ^{[42
]}

van Rensburg, Elizabeth J. ^{[43
]}

Vega, Ana ^{[44
,45
,46
]}

Weitzel, Jeffrey N. ^{[47
]}

Hoskins, Kent F. ^{[48
]}

Maga, Tara ^{[48
]}

Parsons, Michael T. ^{[49
]}

McGuffog, Lesley ^{[11
]}

Antoniou, Antonis C. ^{[11
]}

Chenevix-Trench, Georgia ^{[49
]}

Huo, Dezheng ^{[50
]}

Olopade, Olufunmilayo I. ^{[50
]}

Rebbeck, Timothy R. ^{[1
,2
]}

机构：

[1] Harvard TH Chan Sch Publ Hlth, Boston, MA USA

[2] Dana Farber Canc Inst, 1101 Dana Bldg,450 Brookline Ave, Boston, MA 02215 USA

[3] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada

[4] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[5] Univ Hosp Vall dHebron, Vall dHebron Inst Oncol, High Risk & Canc Prevent Grp, Barcelona, Spain

[6] Univ Calif San Francisco, Canc Genet & Prevent Program, San Francisco, CA 94143 USA

[7] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[8] Fox Chase Canc Ctr, Dept Clin Genet, 7701 Burholme Ave, Philadelphia, PA 19111 USA

[9] Univ Penn, Dept Med, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA

[10] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[11] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge, England

[12] McGill Univ, Program Canc Genet, Dept Human Genet, Montreal, PQ, Canada

[13] McGill Univ, Program Canc Genet, Dept Oncol, Montreal, PQ, Canada

[14] Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Sch Med, Div Canc Prevent & Control Res, Los Angeles, CA 90024 USA

[15] Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Sch Publ Hlth, Div Canc Prevent & Control Res, Los Angeles, CA 90024 USA

[16] Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02115 USA

[17] NCI, Div Canc Epidemiol & Genet, Clin Genet Branch, Bethesda, MD 20892 USA

[18] NorthShore Univ HealthSyst, Ctr Med Genet, Evanston, IL USA

[19] Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA

[20] Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA

[21] Univ Pittsburgh, Sch Med, Dept Med, Div Hematol Oncol,UPMC,Hillman Canc Ctr, Pittsburgh, PA 15213 USA

[22] Cedars Sinai Med Ctr, Womens Canc Program, Samuel Oschin Comprehens Canc Inst, Los Angeles, CA 90048 USA

[23] Weatmead Hosp, Familial Canc Serv, Wentworthville, NSW, Australia

[24] Hong Kong Hereditary Breast Canc Family Registry, Canc Genet Ctr, Happy Valley, Hong Kong, Peoples R China

[25] Univ Hong Kong, Dept Surg, Pok Fu Lam, Hong Kong, Peoples R China

[26] Hong Kong Sanat & Hosp, Dept Surg, Happy Valley, Hong Kong, Peoples R China

[27] Feinstein Inst Med Res, Manhasset, NY USA

[28] INSERM, Genet Epidemiol Canc Team, Paris, France

[29] Inst Curie, Serv Genet, Paris, France

[30] Inst Curie, Paris, France

[31] Mines ParisTech, Fontainebleau, France

[32] Univ Texas MD Anderson Canc Ctr, Dept Gynecol Oncol, Houston, TX 77030 USA

[33] Univ Texas MD Anderson Canc Ctr, Clin Canc Genet Program, Houston, TX 77030 USA

[34] City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA USA

[35] Mem Sloan Kettering Canc Ctr, Clin Genet Res Lab, Dept Canc Biol & Genet, 1275 York Ave, New York, NY 10021 USA

[36] Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, 1275 York Ave, New York, NY 10021 USA

[37] Barretos Canc Hosp, Mol Oncol Res Ctr, Sao Paulo, Brazil

[38] Dr Paulo Prata FACISB, Barretos Sch Hlth Sci, Sao Paulo, Brazil

[39] Univ Kansas, Med Ctr, Dept Internal Med, Div Oncol, Westwood, KS USA

[40] Univ Cambridge, Addenbrookes Hosp, Addenbrookes Treatment Ctr, Dept Med Genet, Cambridge, England

[41] Ohio State Univ, Dept Canc Biol & Genet, Columbus, OH 43210 USA

[42] Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA

[43] Univ Pretoria, Dept Genet, Arcadia, South Africa

[44] Fdn Publ Galega Med Xen, Santiago De Compostela, Spain

[45] Inst Invest Sanitaria Santiago de Compostela, Santiago De Compostela, Spain

[46] Biomed Network Rare Dis CIBERER, Madrid, Spain

[47] City Hope Natl Med Ctr, Clin Canc Genet, Duarte, CA USA

[48] Univ Illinois, Dept Med, Chicago, IL USA

[49] QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld, Australia

[50] Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA

来源：

HUMAN MUTATION | 2019年 / 40卷 / 10期

基金：

美国国家卫生研究院; 加拿大健康研究院;

关键词：

African ancestry; BRCA1; BRCA2; mutation; pathogenic sequence variant; BREAST-CANCER PATIENTS; EARLY-ONSET BREAST; AMERICAN FAMILIES; MUTATION CARRIERS; OVARIAN-CANCER; PROPHYLACTIC OOPHORECTOMY; SALPINGO-OOPHORECTOMY; HEREDITARY BREAST; FOUNDER MUTATION; RISK REDUCTION;

D O I：

10.1002/humu.23804

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African descent individuals is poorly understood. We undertook a systematic review of the published literature and publicly available databases reporting BRCA1/2 PSVs also accessed the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) database to identify African or African descent individuals. Using these data, we inferred which of the BRCA PSVs were likely to be of African continental origin. Of the 43,817 BRCA1/2 PSV carriers in the CIMBA database, 469 (1%) were of African descent. Additional African descent individuals were identified in public databases (n = 291) and the literature (n = 601). We identified 164 unique BRCA1 and 173 unique BRCA2 PSVs in individuals of African ancestry. Of these, 83 BRCA1 and 91 BRCA2 PSVs are of likely or possible African origin. We observed numerous differences in the distribution of PSV type and function in African origin versus non-African origin PSVs. Research in populations of African ancestry with BRCA1/2 PSVs is needed to provide the information needed for clinical management and decision-making in African descent individuals worldwide.

引用

页码：1781 / 1796

页数：16

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