FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine-Reference-Cited by-同舟云学术

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

Published:2018-01-19 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Nguyen-Dumont Tú,Myszka Aleksander,Karpinski Pawel,Sasiadek Maria M.,Akopyan Hayane,Hammet Fleur,Tsimiklis Helen,Park Daniel J.,Pope Bernard J.,Slezak Ryszard,Kitsera Nataliya,Siekierzynska Aleksandra,Southey Melissa C.^ORCID

Funder

National Health and Medical Research Council

VLSCI

European Social Fund

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0524-x.pdf

Reference17 articles.

1. Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372(23):2243–57.

2. Nguyen-Dumont T, Stewart J, Winship I, Southey MC. Rare genetic variants: making the connection with breast cancer susceptibility. AIMS Genet. 2015;2(4):281–92.

3. BROCA Cancer Risk Panel [ http://tests.labmed.washington.edu/BROCA ]. Accessed June 2017.

4. Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci U S A. 2014;111(42):15172–7.

5. Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, et al. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015;24(18):5345–55.

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