(Q24658557)

J Gertz

25

0 references

Tu Nguyen-Dumont

T Nguyen-Dumont

12

0 references

Fabienne Lesueur

F Lesueur

28

0 references

John Hopper

20

J L Hopper

0 references

Irene L Andrulis

22

I L Andrulis

0 references

Melissa C. Southey

21

M C Southey

0 references

David Goldgar

29

D E Goldgar

0 references

author name string

E L Young

1

0 references

B J Feng

2

0 references

A W Stark

3

0 references

F Damiola

4

0 references

G Durand

5

0 references

N Forey

6

0 references

T C Francy

7

0 references

A Gammon

8

0 references

W K Kohlmann

9

0 references

K A Kaphingst

10

0 references

S McKay-Chopin

11

0 references

A M Paquette

14

0 references

M Pertesi

15

0 references

N Robinot

16

0 references

J S Rosenthal

17

0 references

M Vallee

18

0 references

C Voegele

19

0 references

E M John

23

0 references

M Hashibe

24

0 references

F Le Calvez-Kelm

27

0 references

S V Tavtigian

Journal of Medical Genetics

30

0 references

language of work or name

English

0 references

publication date

June 2016

0 references

published in

0 references

volume

53

0 references

issue

6

0 references

page(s)

366-76

0 references

cites work

The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

1 reference

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A method and server for predicting damaging missense mutations

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography

7 April 2017

1 reference

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Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers

7 April 2017

1 reference

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study

7 April 2017

1 reference

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Rare mutations in XRCC2 increase the risk of breast cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Gene-panel sequencing and the prediction of breast-cancer risk

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Prediction of breast cancer risk based on profiling with common genetic variants

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

28 September 2017

1 reference

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Testing calibration of risk models at extremes of disease risk

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility

28 September 2017

1 reference

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Cancer genomics and inherited risk

28 September 2017

1 reference

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Common breast cancer risk variants in the post-COGS era: a comprehensive review

28 September 2017

1 reference

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Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Genetic ancestry modifies the association between genetic risk variants and breast cancer risk among Hispanic and non-Hispanic white women

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Expresso: automatic incorporation of structural information in multiple sequence alignments using 3D-Coffee

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Predicting functional effect of human missense mutations using PolyPhen-2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Using the T-Coffee package to build multiple sequence alignments of protein, RNA, DNA sequences and 3D structures

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Breast Cancer Screening With Imaging: Recommendations From the Society of Breast Imaging and the ACR on the Use of Mammography, Breast MRI, Breast Ultrasound, and Other Technologies for the Detection of Clinically Occult Breast Cancer

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

A breast cancer prediction model incorporating familial and personal risk factors.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

BRCA1 mutations in primary breast and ovarian carcinomas

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4893078

Genetic/familial high-risk assessment: breast and ovarian, version 1.2014

28 November 2018

1 reference

12 December 2020

Projecting individualized probabilities of developing breast cancer for white females who are being examined annually

1 reference

12 December 2020

Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel

1 reference

12 December 2020

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

1 reference

12 December 2020

Breast cancer. The 'other' breast cancer genes

1 reference

12 December 2020