A systematic review of the international prevalence of BRCA mutation in breast cancer

Figures & data

Figure 1 PRISMA flow chart detailing literature searches and inclusion screening.

Figure 2 Summary of JBI risk of bias assessment for prevalence studies.

Abbreviations: JBI, Joanna Briggs Institute.

Table 1 Summary of key study characteristics

Germline BRCA reported	Deleterious/pathogenic/clinically significant mutation reported	Country	Study ID	Population selection criteria	Hormone receptor status	Breast cancer stage	N at risk of BRCA mutation
Yes	Deleterious	United States	Bayraktar, 2013^Citation45	Mixed	Mixed	Metastatic	195
						TNBC	44
			Couch, 2015^Citation79	Unselected	NR/unclear		1824
			De La Cruz, 2012^Citation74	NR/unclear	Mixed	Invasive	196
			Guerra, 2017^Citation25	Hispanic	NR/unclear	NR/unclear	2329
			Keung, 2012^Citation43	Mixed	Mixed	Metastatic	1
						Mixed	26
						Locally advanced	4
					TNBC	NR/unclear	3
			Rummel, 2013^Citation33	Unselected		Mixed	182
			Sanford, 2014^Citation35	NR/unclear		NR/unclear	122
					HR low+, HER2-		144
			Sanford, 2015^Citation76		TNBC		238
					HR low+, HER2-		314
			Sharma, 2014^Citation42	Unselected	TNBC	Mixed	207
						Family history	128
			Stadler, 2012^Citation50	Ashkenazi, family history of pancreatic cancer	NR/unclear	NR/unclear	211
					Tung, 2015^Citation16	Ashkenazi excluded	1781
			Tung, 2016^Citation46	Unselected, female	HR+/HER2-	Stages I to III	301
					Mixed		488
					TNBC		87
		Spain	de Juan Jimenez, 2012^Citation18	Sporadic BC (no family history or other criteria for hereditary BC screening)	Mixed	Metastatic	23
					Mixed		495
			Gonzalez-Rivera, 2016^Citation24	Unselected	TNBC	Stages II-III	105
			Zugazazoitia, 2014^Citation73	Mixed	Mixed	Mixed	341
					TNBC		57
		Australia	Wong-Brown, 2015^Citation82	Unselected			439
		France	Tunon De Lara, 2017^Citation72	Decided with each patient, based on age, family history, and tumor histology	Mixed	NR/unclear	25
		South Korea	Jung, 2016^Citation71	Family history		Invasive	181
						Mixed	411
		Sardinia/Italy	Palomba, 2014^Citation77	Unselected		NR/unclear	726
							49
	Pathogenic	United States	Rummel, 2017^Citation34	Unselected, early onset (age <40 years)	Mixed	Mixed	118
			Ross, 2017^Citation70	Female with multiple BC primaries	NR/unclear	NR/unclear	65
			Ellsworth, 2017^Citation21	Females with TNBC	TNBC		196
		Spain	Andres, 2014^Citation69	No family history, diagnosed at age <50 years			92
		France	Meynard, 2017^Citation80	Unselected	NR/unclear	Metastatic	407
		Germany	Kast, 2016^Citation78	Family history		NR/unclear	59,304
		South Korea	Kim, 2012^Citation26	Unselected			471
				NR/unclear			2139
				High risk (early onset BC, bilateral BC, male BC, or cancer of multiple organs that include breast)			1668
		Israel/Palestine	Lolas Hamameh, 2017^Citation68	Diagnosis at age ≤40 years, or with family history	Mixed	Mixed	453
		TNBC					44
	Clinically significant	South Korea	Seong, 2014^Citation67	Family history, female	Mixed		221
					TNBC		42
	NR/unclear	United States	Vidula, 2017^Citation39	Metastatic BC	Mixed	Metastatic	178
		Germany	Fasching, 2017^Citation81	Unselected	NR/unclear		1462
		Italy	Musolino, 2012^Citation29			NR/unclear	55
		Russia	Cherdyntseva, 2014^Citation47	Family history			765
No	Deleterious	United States	Beck, 2017^Citation66	Young age (<50 years) at diagnosis	TNBC		199
			Hartman, 2012^Citation65	Unselected
			Weitzel, 2013^Citation51	Family history, Hispanic	NR/unclear		610
			Welinsky, 2016^Citation64	Unselected			191
		Germany	Rhiem, 2016^Citation63	Without family history	TNBC		750
		South Korea	Han, 2013^Citation84	Family history	NR/unclear		775
		Japan	Kitagawa, 2014^Citation27	NR/unclear	TNBC		123
	Pathogenic	United States	Buys, 2017^Citation62	Mixed	Mixed		35,409
					TNBC		4797
			Pal, 2015^Citation14	Female, black, diagnosed age ≤50 years	Mixed	Invasive	396
					TNBC		66
			Susswein, 2016^Citation61	Female, no known previous BRCA testing	NR/unclear	NR/unclear	3315
		United Kingdom	Eccles, 2017^Citation60	Age <40 years at diagnosis	TNBC		542
		South Korea	Kang, 2015^Citation41	Family history	Mixed		1228
				Family history of breast or ovarian cancer or diagnosis age ≤40 years with bilateral BC or BC with other primary malignancy or male BC, in accordance with the standard of National Medical Insurance Reimbursement in Korea			2403
			Yoon, 2017^Citation40	Mixed	NR/unclear	Mixed	328
	NR/unclear	United States	Biskupiak, 2017^Citation59	NR/unclear	Mixed	Invasive	816
			Emborgo, 2016^Citation22	Unselected	TNBC	NR/unclear	377
			Greenup, 2013^Citation3	NR/unclear			450
			Pal, 2012^Citation58	Black women with early onset BC	NR/unclear	Invasive	48
			Pal, 2014^Citation30	Female, black, diagnosed age ≤50 years	Mixed		283
			Petersen, 2016^Citation57	Age <60 years at diagnosis	TNBC	NR/unclear	87
			Skandan, 2016^Citation36	NR/unclear	Mixed	Mixed	32
			Vidula, 2017^Citation39	Metastatic BC		Metastatic	178
		United Kingdom	Rahman, 2017^Citation56	BC diagnosis at age <40 years or bilateral BC diagnosed at age <60 years or TNBC or breast + ovarian cancer or male BC	NR/unclear	NR/unclear	1020
				Family history, other^a			368
			Robertson, 2012^Citation32	Unselected	TNBC		159
				Family history and/or young age at diagnosis			149
		Australia	Duffy, 2012^Citation19	Age <31 years at diagnosis	NR/unclear		91
		Canada	Ghadirian, 2014^Citation49	Family history 51+, all women 50-	Mixed	Mixed	1093
			Vanstone, 2012^Citation38	NR/unclear	NR/unclear	NR/unclear	1003
		Israel	Asleh-Aburaya, 2015^Citation17	Family history	TNBC	Mixed	30
			Dagan, 2017^Citation44	Female, Ashkenazi, early onset	Mixed	Metastatic	3
						Mixed	149
						Locally advanced	13
		South Korea	Lee, 2015^Citation28	NR/unclear	TNBC	NR/unclear	534
			Sohn, 2016^Citation55	Unselected	NR/unclear		358
			Son, 2012^Citation37	High risk (early onset BC defined as diagnosis age ≤40 years, bilateral BC, personal history of breast and ovarian cancer, male BC, or cancer of multiple organs that include breast)			758
		Italy	Loi, 2017^Citation87	High individual or familial BC risk (age at diagnosis <50 years, contralateral BC, personal or family history of male BC/BRCA mutation/ovarian cancer)	Mixed	Mixed	86
		Russia	Polonikov, 2015^Citation31	NR/unclear	NR/unclear	NR/unclear	217
Unsure	Deleterious	United States	Pal, 2014^Citation54	Female, black, diagnosed age ≤50 years	Mixed	Invasive	144
	Pathogenic		Pal, 2013^Citation53		NR/unclear		46
		United Kingdom	Eccles, 2016^Citation20	Mixed	HER2+, HR status unknown	Mixed	101
		South Korea	Park, 2017^Citation15	Family history of breast or ovarian cancer or diagnosis at age ≤40 years with bilateral BC or BC with other primary malignancy or male BC, in accordance with the standard of National Medical Insurance Reimbursement in Korea	HR+/HER2-		252
					Mixed		478
					TNBC		76
	NR/unclear	United States	Ellsworth, 2012^Citation48	Female, mixed		NR/unclear	154
		South Korea	Noh, 2013^Citation52	Family history of breast or ovarian cancer or <40 years of age at diagnosis or bilateral BC, or male sex	Mixed		209

Notes: ^aNot fulfilling any of the following criteria: BC <40 years; bilateral BC <60 years; TNBC; BC + ovarian cancer; male BC.

Abbreviations: +, positive; -, negative; BC, breast cancer; BRCA, BC susceptibility gene; HER2+, human epidermal growth factor receptor 2–positive; HER2-, human epidermal growth factor receptor 2–negative; HR+, hormone receptor–positive; ID, identification; low+ indicates 1–9% on immunohistochemistry; NR, not reported; TNBC, triple-negative BC.

Figure 3 Prevalence (%) in largest (N>500) studies.

Notes: Horizontal axis has 3 levels: bottom – selection (family history/sex/ethnicity); middle – hormone receptor status (red = TNBC, dark green = mixed, light green = NR/unclear); top – country. BC stage not shown because NR/unclear for all but 2 studies (1 mixed and 1 invasive); *Bar for Son, 2012³⁷ is striped in order to distinguish it from bar for Kim, 2012: it is of mixed hormone receptor status.²⁶ Pale blue = germline reported; red text = deleterious/pathogenic/clinically significant reported. High risk: based on fulfilment of at least 1 of a set of criteria, including family history, early onset, or male BC, which vary by study (See Table 1). Mixed: implies that the study included both those individuals with and without a family history of breast cancer, but the study did not report that probands were unselected.
Abbreviations: BC, breast cancer; NR, not reported; TNBC, triple-negative breast cancer.

Table 2 Germline BRCA mutation prevalence in those unselected for family history, age, sex, or ethnicity

Country	Study ID	Breast cancer stage	N at risk of mutation	% BRCA1	% BRCA2	% BRCA1/2
TNBC
United States	Sharma, 201442	Mixed	207	11.1	4.3	15.4
	Couch, 201579	NR/unclear	1824	8.5	2.7	11.2
	Rummel, 2013^Citation33	Mixed	182	9	NA	NA
Spain	Gonzalez-Rivera, 201624	Stages II-III	105	12.4	1.9	14.3
Australia	Wong-Brown, 201582	Mixed	439	5.9	3.4	9.3
HR+/HER2-
United States	Tung, 201646	Stages I-III	301	1.7	3.3	5.0
Mixed hormone receptor status
Sardinia/Italy	Palomba, 201477	NR/unclear	726	1.0	1.9	2.9
United States	Tung, 201646	Stages I-III	488	3.7	2.5	6.1
Germany	Fasching, 201781	Metastatic	1462	1.4	2.9	4.3
France	Meynard, 201780	Metastatic	407	0.7	2.0	2.7
Hormone receptor status NR/unclear
South Korea	Kim, 201226	NR/unclear	471	1.5	1.5	3.0

Notes: Bold = germline reported; Italics = deleterious/pathogenic/clinically significant reported. Mixed: implies that the study included both those with and without a family history of breast cancer, but the study did not report that probands were unselected.

Abbreviations: BRCA1/2, BC susceptibility gene 1 or 2; HER2-, human epidermal growth factor receptor 2–negative; HR+, hormone receptor–positive; ID, identification; NA, not applicable; NR, not reported; TNBC, triple-negative breast cancer.

Table 3 BRCA mutation prevalence in advanced breast cancer

Country	Study ID	Selection	Hormone receptor status	N at risk of mutation	% BRCA1	% BRCA2	% BRCA1 and 2	% BRCA1/2
Metastatic BC
United States	Bayraktar, 201345	Mixed	Mixed	195	15.0	6.0	0.00	21.0
	Vidula, 2017^Citation39	NR/unclear		178	NR	NR	NR	15.2
								0.6^a
Germany	Fasching, 2017^Citation81	Unselected	NR/unclear	1462	1.4	2.9		4.3
France	Meynard, 201780	Unselected	Mixed	407	0.7	2.0	0.00	2.7
Locally advanced BC
United States	Keung, 201243	Mixed	Mixed	4	NA	75.0	NA	NA
Israel	Dagan, 2017^Citation44	Female, Ashkenazi, Early onset		13	23.1	30.8	0.0	53.8

Notes: Bold = germline reported; italics = deleterious/pathogenic/clinically significant reported. ^aWithin this study, 1/178 (0.6%) probands were identified as having a mutation that was germline. Mixed: implies that the study included both those individuals with and without a family history of breast cancer, but the study did not report that probands were unselected.

Abbreviations: BC, breast cancer; BRCA1/2, BC susceptibility gene 1 or 2; ID, identification; NA, not applicable; NR, not reported.

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