Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens

被引：32

作者：

Evans, D. G. ^{[1
,2
,3
,4
]}

Lalloo, F. ^{[3
]}

Howell, S. ^{[4
,5
]}

Verhoef, S. ^{[3
]}

Woodward, E. R. ^{[1
,3
]}

Howell, A. ^{[2
,4
]}

机构：

[1] Univ Manchester, Inst Human Dev, MAHSC, Manchester Ctr Genom Med,St Marys Hosp, Manchester M13 9WL, Lancs, England

[2] Univ Hosp South Manchester NHS Trust, Genesis Breast Canc Prevent Ctr, Manchester M23 9LT, Lancs, England

[3] Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England

[4] Christie, Manchester Breast Ctr, Manchester M20 4BX, Lancs, England

[5] Christie, Dept Med Oncol, Manchester M20 4BX, Lancs, England

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2016年 / 155卷 / 03期

关键词：

BRCA1; BRCA2; HER2; Triple negative; BREAST-CANCER RISK; ESTROGEN-RECEPTOR; TUMOR PATHOLOGY; PREDICTION; PROBABILITIES; BOADICEA; GENES;

D O I：

10.1007/s10549-016-3697-z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The aim of this study is to delineate more clearly the prevalence of HER2+ breast cancer in women with germline BRCA1/2 mutations. For this purpose, we analysed primary mutation screens on women with breast cancer with unequivocal HER2 amplification and assessed the proportion of BRCA1 and BRCA2 breast cancers that were HER2+ comparing this with the existing literature. The results are that 1063 primary BRCA screens had confirmed tumour HER2 status. If HER2+ only 2.5 % (4/156) and 3.2 % (5/156) of women had a BRCA1 or BRCA2 mutation identified respectively; compared to 27.7 % (115/415) and 8.2 % (34/415) with triple negative tumours. Only 2.1 % (4/195) women with BRCA1-related breast cancer had HER2 amplified breast cancers rising to 6.8 % (n = 12, p = 0.04) in BRCA2. These rates are in keeping with most of the existing literature except a recent large multicenter report which documented higher rates but with no control group. The study concluded that true HER2-amplified breast cancers are rare amongst BRCA1 mutation carriers and are less common in BRCA2 than background rates.

引用

页码：597 / 601

页数：5

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