Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer-Reference-Cited by-同舟云学术

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Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

Published:2018-05-21 Issue:1 Volume:18 Page:105-108
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Bush Lisa^ORCID,Aronson Melyssa,Tabori Uri,Campbell Brittany B.,Bedgood Raymond B.,Jasperson Kory

Funder

SU2C Catalyst Research Grant

Canadian Institute of Health Research Joint Israel-Canada Health Program

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

http://link.springer.com/article/10.1007/s10689-018-0088-0/fulltext.html

Reference21 articles.

1. Vasen HFA, Ghorbanoghli Z, Bourdeaut F, Cabaret O, Caron O, Duval A, Entz-Werle N, Goldberg Y, Ilencikova D, Kratz CP, Lavoine N, Loeffen J, Menko FH, Muleris M, Sebille G, Colas C, Burkhardt B, Brugieres L, Wimmer K, on behalf of the EU-Consortium Care for CMMR-D (C4CMMR-D) (2014) Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 51(5):283–293

2. Wimmer K, Kratz CP, Vasen HFA, Caron O, Colas C, Entz-Werle N, Gerdes AM, Goldberg Y, Ilencikova D, Muleris M, Duval A, Lavoine N, Ruiz-Ponte C, Slavc I, Burkhardt B, Brugieres L, on behalf of the EU-Consortium Care for CMMRD (C4CMMRD) (2014) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD). J Med Genet 51(6):355–365

3. Wimmer K, Etzler J (2008) Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 124(2):105–122

4. Wimmer K, Kratz CP (2010) Constitutional mismatch repair-deficiency syndrome. Haematologica 95(5):699–701

5. Bakry D, Aronson M, Durno C, Rimawi H, Farah R, Alharbi QK, Alharbi M, Shamvil A, Ben-Shachar S, Mistry M, Constantini S, Dvir R, Qaddoumi I, Gallinger S, Lerner-Ellis J, Pollett A, Stephens D, Kelies S, Chao E, Malkin D, Bouffet E, Hawkins C, Tabori U (2014) Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer 50(5):987–996

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals;International Journal of Molecular Sciences;2021-04-28

2. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group;Journal of Medical Genetics;2021-02-23

3. Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants;Frontiers in Oncology;2020-05-29

4. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy;Journal of Medical Genetics;2018-11-10

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