(Q34426529)

2 August 2017

title

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles (English)

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2 August 2017

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11

Jason Ellul

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2 August 2017

17

Ian G Campbell

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2 August 2017

Ella R Thompson

1

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2 August 2017

Maria A Doyle

2

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2 August 2017

Georgina L Ryland

3

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2 August 2017

Simone M Rowley

4

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2 August 2017

David Y H Choong

5

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2 August 2017

Richard W Tothill

6

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2 August 2017

Heather Thorne

7

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2 August 2017

kConFab

8

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2 August 2017

Daniel R Barnes

9

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2 August 2017

Jason Li

10

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2 August 2017

Gayle K Philip

12

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2 August 2017

Yoland C Antill

13

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2 August 2017

Paul A James

14

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2 August 2017

Alison H Trainer

15

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2 August 2017

Gillian Mitchell

16

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2 August 2017

language of work or name

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27 September 2012

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2 August 2017

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2 August 2017

volume

8

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2 August 2017

issue

9

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2 August 2017

page(s)

e1002894

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Creative Commons Attribution 4.0 International

2 August 2017

copyright license

start time

27 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

6 July 2018

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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

6 July 2018

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6 July 2018

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

6 July 2018

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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

6 July 2018

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6 July 2018

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Familial relative risks for breast cancer by pathological subtype: a population-based cohort study

6 July 2018

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6 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

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Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene

6 July 2018

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Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

6 July 2018

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Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins

6 July 2018

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Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry

6 July 2018

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Overcoming the winner's curse: estimating penetrance parameters from case-control data

6 July 2018

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The genetic epidemiology of breast cancer genes

6 July 2018

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Predicting deleterious amino acid substitutions

6 July 2018

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6 July 2018

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Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

6 July 2018

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Identification of the breast cancer susceptibility gene BRCA2

6 July 2018

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A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

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6 July 2018

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Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

6 July 2018

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Heterozygosity for the BLM(Ash) mutation and cancer risk

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

kConFab: a research resource of Australasian breast cancer families. Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

27 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3459953

BLM heterozygosity and the risk of colorectal cancer

9 December 2018

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12 December 2020

Fanconi anemia gene mutations in young-onset pancreatic cancer

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12 December 2020

Germ line Fanconi anemia complementation group C mutations and pancreatic cancer

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12 December 2020

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

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12 December 2020

Familial predisposition to breast cancer in a British population: implications for prevention

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12 December 2020

10.1371/JOURNAL.PGEN.1002894

Identifiers

DOI

1 reference

2 August 2017

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2 August 2017

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