Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer-Reference-Cited by-同舟云学术

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Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

Published:2018-01-16 Issue:1 Volume:18 Page:
ISSN:1471-2407
Container-title:BMC Cancer
language:en
Short-container-title:BMC Cancer

Author:

Park Ji Soo,Lee Seung-Tae,Nam Eun Ji,Han Jung Woo,Lee Jung-Yun,Kim Jieun,Kim Tae Il,Park Hyung Seok

Funder

Korea Breast Cancer Foundation

National Research Foundation of Korea

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics,Oncology

Link

http://link.springer.com/content/pdf/10.1186/s12885-017-3940-y.pdf

Reference23 articles.

1. Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, et al. Multigene testing of moderate-risk genes: be mindful of the missense. J Med Genet. 2016;53(6):366–76.

2. Park HS, Park JS, Nam EJ, Lee S-T, Han JW, Kim TI. Clinical implications of genetic testing for hereditary breast and ovarian cancer syndrome in the era of genomic medicine: Clinician’s perspectives. J Breast Dis. 2016;4(1):1–9.

3. Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics. 2012;28(21):2747–54.

4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

5. Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. 2016;18(8):823–32.

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