PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS - Test2 - elhamkhani - TriplyDB

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

http://www.wikidata.org/entity/Q28584533

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Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland Decision making for breast cancer prevention among women at elevated risk Association of Common Genetic Variants With Contralateral Breast Cancer Risk in the WECARE Study.Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.Mutation status of RAD51C, PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations.Expanding the spectrum of germline variants in cancer.Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients.Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.Pathogenic Germline Variants in 10,389 Adult Cancers.Update Breast Cancer 2018 (Part 2) - Advanced Breast Cancer, Quality of Life and Prevention.Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review.Nipple-sparing mastectomy in women at high risk of developing breast cancer.

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P2860

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

http://www.wikidata.org/entity/Q28584533

description

2016 nî lūn-bûn

@nan

2016 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2016年の論文

@ja

2016年論文

@yue

2016年論文

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2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

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2016年论文

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name

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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type

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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JMEDGENET-2016-103839

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Journal of Medical Genetics

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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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Adam S Kibel

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Ali Amin Al Olama

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Alice S Whittemore

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Andreas du Bois

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Andrew Berchuck

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Anna H Wu

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Anne M van Altena

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Arndt Hartmann

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Bernardo Bonanni

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Beth Y Karlan

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P2860

Dominant Negative ATM Mutations in Breast Cancer Families

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Penetrance analysis of the PALB2 c.1592delT founder mutation.

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

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

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

A novel germline PALB2 deletion in Polish breast and ovarian cancer patients

Breast-cancer risk in families with mutations in PALB2

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3679759

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10.1136/JMEDGENET-2016-103839

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12

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53

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Georgia Chenevix-Trench

David J. Hunter

Jenny Chang-Claude

Jorge Reis-Filho

Diether Lambrechts

Stephen Chanock

Hoda Anton-Culver

Montserrat García-Closas

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2016-12-01T00:00:00Z

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