Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model

scientific article published on 14 April 2016

Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/GIM.2016.31
P2888exact matchhttps://scigraph.springernature.com/pub.10.1038/gim.2016.31
P932PMC publication ID5086091
P698PubMed publication ID27464310

P50authorPaul D P PharoahQ61822938
Jacques SimardQ64516110
Marc TischkowitzQ66439010
Antonis C AntoniouQ89766295
Douglas F. EastonQ59812154
P2093author name stringAndrew J Lee
Alex P Cunningham
P2860cites workLow-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutationsQ28215462
Large-scale genotyping identifies 41 new loci associated with breast cancer riskQ29416989
Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the diseaseQ30665466
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessmentQ33796155
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibilityQ33904964
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studiesQ33910280
Gene-gene interactions in breast cancer susceptibilityQ34017597
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based studyQ74157664
Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive familiesQ84785212
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panelQ85247141
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer ConsortiQ86554647
Multigene panel testing: planning the next generation of research studies in clinical cancer geneticsQ87968246
Incorporating tumour pathology information into breast cancer risk prediction algorithmsQ34048046
Breast-cancer risk in families with mutations in PALB2Q34148873
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2Q34384153
Cancer risks and mortality in heterozygous ATM mutation carriersQ34422846
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility allelesQ34546389
CHEK2 is a multiorgan cancer susceptibility geneQ34551970
The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi populationQ34697321
No evidence of excess breast cancer risk among mutation-negative women from BRCA mutation-positive familiesQ35033167
Development of cancer genetic services in the UK: A national consultationQ35124732
Rare variants in the ATM gene and risk of breast cancerQ35608690
Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family RegistryQ35609710
The genetic epidemiology of breast cancer genesQ35959353
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancerQ35996692
Gene-panel sequencing and the prediction of breast-cancer riskQ36175072
Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial studyQ36300580
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancerQ36449203
Prediction of breast cancer risk based on profiling with common genetic variantsQ36583004
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensionsQ36615665
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screeningQ37004478
A prospective study of breast cancer risk in relatives of BRCA1/BRCA2 mutation carriersQ37004562
CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controlsQ37048943
PALB2 and breast cancer: ready for clinical translation!Q37074279
Family history, genetic testing, and clinical risk prediction: pooled analysis of CHEK2 1100delC in 1,828 bilateral breast cancers and 7,030 controlsQ37307305
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancerQ37373918
BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interfaceQ37507410
A risk prediction algorithm based on family history and common genetic variants: application to prostate cancer with potential clinical impactQ37632049
Hereditary breast cancer: the era of new susceptibility genesQ39657506
Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysisQ41748948
Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2.Q46520947
CHEK2 variant I157T may be associated with increased breast cancer riskQ47236534
Loss-of-function variants in ATM confer risk of gastric cancerQ48168326
A breast cancer prediction model incorporating familial and personal risk factors.Q52000310
Programs for pedigree analysis: Mendel, Fisher, and dGeneQ59760870
P433issue12
P407language of work or nameEnglishQ1860
P921main subjectbreast cancerQ128581
P304page(s)1190-1198
P577publication date2016-04-14
P1433published inGenetics in MedicineQ15765508
P1476titleIncorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model
P478volume18

Reverse relations

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