New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis (Q28307340)

Gardenia Vargas

9

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Cecilia Egoavil

Cecilia Egoavil

15

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Laura Valle

Laura Valle

1

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Marta Pineda

Marta Pineda

24

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José Luis Soto

José Luís Soto

25

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Joan Brunet

Joan Brunet

19

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Ignacio Blanco

Ignacio Blanco

26

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Sara González

Sara González

20

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Carla Guarinos

10

Carla Guarinos

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Adela Castillejo

5

Adela Castillejo

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María-Isabel Castillejo

6

María-Isabel Castillejo

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Rodrigo Jover

21

Rodrigo Jover

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Cristina Alenda

14

Cristina Alenda

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Eva Hernández-Illán

2

Eva Hernández-Illán

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María Rodriguez-Soler

18

María Rodriguez-Soler

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Angel M Segura

16

Ángel Segura

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author name string

Fernando Bellido

3

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Gemma Aiza

4

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Matilde Navarro

7

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Nuria Seguí

8

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Miriam Juarez

11

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Xavier Sanjuán

12

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Silvia Iglesias

13

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María-José Juan

17

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Conxi Lázaro

22

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Gabriel Capellá

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

23

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language of work or name

English

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publication date

1 July 2014

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published in

Human Molecular Genetics

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volume

23

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page(s)

3506-12

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issue

13

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cites work

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Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors

21 January 2018

1 reference

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Lynch syndrome and related familial colorectal cancers

21 January 2018

1 reference

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Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

21 January 2018

1 reference

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Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

21 January 2018

1 reference

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The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

21 January 2018

1 reference

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Peutz-Jeghers syndrome: a systematic review and recommendations for management

21 January 2018

1 reference

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When overgrowth bumps into cancer: the PTEN-opathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers

21 January 2018

1 reference

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Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

21 January 2018

1 reference

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Somatic APC mosaicism: an underestimated cause of polyposis coli.

21 January 2018

1 reference

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Genetics: new classification for endometrial cancer puts genes in POLE position

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Clinical subtypes and molecular characteristics of serrated polyposis syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Identification and analysis of deleterious human SNPs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Accounting for human polymorphisms predicted to affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU058

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDU058

1 reference

Consolidated OpenCitations Corpus – April 2017

2646116

2646116

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference