Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond

被引：35

作者：

Hall, M. J. ^{[1
]}

Obeid, E. I. ^{[1
]}

Schwartz, S. C. ^{[1
,2
]}

Mantia-Smaldone, G. ^{[2
]}

Forman, A. D. ^{[1
]}

Daly, M. B. ^{[1
]}

机构：

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

[2] Fox Chase Canc Ctr, Dept Gynecol Oncol, 7701 Burholme Ave, Philadelphia, PA 19111 USA

来源：

GYNECOLOGIC ONCOLOGY | 2016年 / 140卷 / 03期

关键词：

Genetic risk; BRCA1/2; Lynch Syndrome; Panel tests; NONPOLYPOSIS COLORECTAL-CANCER; REDUCING SALPINGO-OOPHORECTOMY; NEWLY-DIAGNOSED PATIENTS; QUALITY-OF-LIFE; ORAL-CONTRACEPTIVES; ENDOMETRIAL CANCER; FAMILY-HISTORY; BREAST-CANCER; GERMLINE MUTATIONS; COST-EFFECTIVENESS;

D O I：

10.1016/j.ygyno.2016.01.019

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Obstetrician/gynecologists and gynecologic oncologists serve an integral role in the care of women at increased hereditary risk of cancer. Their contribution includes initial identification of high risk patients, screening procedures like bimanual exam, trans-vaginal ultrasound and endometrial biopsy, prophylaxis via TAH and/or BSO, and chemoprevention. Further, gynecologists also serve a central role in the management of the secondary repercussions of efforts to mitigate increased cancer risks, including vasomotor symptoms, sexual function, bone health, cardiovascular disease, and mental health. The past several years has seen multiple new high and moderate penetrance genes introduced into the clinical care of women at increased risk of gynecologic malignancy. Awareness of these new genes and the availability of new multi-gene panel tests is critical for providers on the front-line of women's health. (C) 2016 Elsevier Inc. All rights reserved.

引用

页码：565 / 574

页数：10

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