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A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics

artículo científico publicado en 2005

A simplified method for segregation analysis (SISA) to determine penetrance and expression of a genetic variant in a family

artículo científico publicado el 22 de febrero de 2011

A snapshot of current genetic testing practice in Lynch syndrome: The results of a representative survey of 33 Latin American existing centres/registries

artículo científico publicado en 2019

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

artículo científico publicado en 2017

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation

scientific article published on 21 May 2018

Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Amplification of TOP2A and HER-2 genes in breast cancers occurring in patients harbouring BRCA1 germline mutations

artículo científico publicado en 2007

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

artículo científico publicado en 2020

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families

artículo científico publicado el 19 de junio de 2012

Ancient genomes from Iceland reveal the making of a human population

artículo científico publicado en 2018

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

artículo científico publicado en 2013

BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample

artículo científico publicado en 2004

Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study

artículo científico publicado en 2005

CGEN-A clinical GENetics software application

artículo científico publicado el 8 de marzo de 2011

Cancer Risks for PMS2-Associated Lynch Syndrome

artículo científico publicado en 2018

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

artículo científico publicado en 2015

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

artículo científico publicado en 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

Causes for Frequent Pathogenic Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift

article

Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts

article

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

artículo científico publicado en 2011

Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

article by Juul T. Wijnen et al published 20 August 1998 in The New England Journal of Medicine

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2017

Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers

artículo científico publicado en 2012

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2007

Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment

artículo científico publicado en 2023

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

artículo científico publicado en 2020

Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132

scientific article published on 10 February 2020

Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers

artículo científico publicado en 2010

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

artículo científico publicado en 2011

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2003

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

artículo científico publicado en 2005

Estimated prevalence of hereditary cancers and the need for surveillance in a Norwegian county, Telemark

artículo científico publicado en 2006

Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report

artículo científico publicado en 2010

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

article

Genetic epidemiology of BRCA mutations – family history detects less than 50% of the mutation carriers

article

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

artículo científico publicado en 2018

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses

artículo científico publicado en 2010

Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families

artículo científico publicado en 2010

Germline PTEN mutations are rare and highly penetrant

artículo científico publicado en 2006

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

artículo científico publicado en 2012

Hereditary breast cancer

artículo científico publicado en 2005

High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series

artículo científico publicado en 2010

High risk for ovarian cancer in a prospective series is restricted to BRCA1/2 mutation carriers

artículo científico publicado en 2008

High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers

artículo científico publicado en 2008

Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers

artículo científico publicado en 2018

Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study

artículo científico publicado en 2016

Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2005

Hormone therapy and the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2008

Identification of genetic variants for clinical management of familial colorectal tumors.

artículo científico publicado en 2018

Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2005

Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2014

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

artículo científico publicado en 2016

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

artículo científico publicado en 2008

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

scientific article published on 11 April 2019

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

artículo científico publicado en 2015

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

scientific article published on 28 February 2019

Long-term outcomes following a diagnosis of ovarian cancer at the time of preventive oophorectomy among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2020

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk

artículo científico publicado en 2014

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

artículo científico publicado en 2020

MRI screening of women with hereditary predisposition to breast cancer: diagnostic performance and survival analysis

artículo científico publicado en 2014

MUTYH Mutations Do Not Cause HNPCC or Late Onset Familial Colorectal Cancer

artículo científico publicado en 2006

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

artículo científico publicado en 2005

Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study

article

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

article

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study

artículo científico publicado en 2021

No sib pair concordance for breast or ovarian cancer in BRCA1 mutation carriers

scientific article published on 15 June 2007

Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2019

Oral contraceptives and risk of familial breast cancer

scientific article published on 01 January 2002

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2002

Our genes, our selves: hereditary breast cancer and biological citizenship in Norway

artículo científico publicado en 2018

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2006

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

artículo científico publicado en 2017

Prediction of a mismatch repair gene defect by microsatellite instability and immunohistochemical analysis in endometrial tumours from HNPCC patients

article

Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group

artículo científico publicado en 2008

Prevention of colorectal cancer by colonoscopic surveillance in families with hereditary colorectal cancer

artículo científico publicado en 2007

Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers: a cost-effectiveness analysis

artículo científico publicado en 2008

Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2018

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)

artículo científico publicado en 2020

Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer

artículo científico publicado en 2008

Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations

artículo científico publicado en 2005

Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation

artículo científico publicado en 2006

Recent advances in Lynch syndrome

artículo científico publicado en 2020

Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study

article

Response to Tolva et al

artículo científico publicado en 2019

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

Retinoblastoma--hereditary eye cancer in children?

artículo científico publicado en 2004

Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer.

artículo científico publicado en 2018

Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study

artículo científico publicado en 2015

Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1/2 mutation carriers

artículo científico publicado en 2013

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

scientific article published on 18 July 2020

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2020

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

artículo científico publicado en 2006

Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study

artículo científico publicado en 2006

Sensitivity of MRI versus conventional screening in the diagnosis of BRCA-associated breast cancer in a national prospective series

artículo científico publicado en 2007

Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update

artículo científico publicado en 2008

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry

artículo científico publicado en 2020

Sperm mutations and older fathers

artículo científico publicado en 2013

Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers

artículo científico publicado en 2006

Surveillance for familial breast cancer: Differences in outcome according toBRCA mutation status

artículo científico publicado en 2007

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

Survival in Norwegian BRCA1 mutation carriers with breast cancer

artículo científico publicado en 2009

Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics,BRCAmutations and oophorectomy

article

Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds

artículo científico publicado en 2009

Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program

artículo científico publicado el 25 de abril de 2013

Ten modifiers of BRCA1 penetrance validated in a Norwegian series

artículo científico publicado en 2015

The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance

artículo científico publicado en 2020

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect

scientific article published on 01 March 2019

The BRCA2 variant c.68-7 T>A is associated with breast cancer

artículo científico publicado en 2017

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome

scientific article published on 28 March 2019

The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry

scientific article published on 21 April 2014

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care

scientific article published on 14 March 2020

The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation

artículo científico publicado en 2014

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

artículo científico publicado en 2015

The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations

artículo científico publicado en 2006

The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

artículo científico publicado en 2013

The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study

artículo científico publicado en 2013

The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours

artículo científico publicado en 2003

The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study

artículo científico publicado en 2006

Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers

artículo científico publicado en 2014

Towards evidence-based management of inherited breast and breast-ovarian cancer

artículo científico publicado en 2004

Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2015

Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography

artículo científico publicado en 2015

Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway

scientific article published on 01 October 2003

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

artículo científico publicado en 2021

Use of Cytology to Diagnose Inherited Breast Cancer

[Handling of hereditary intestinal cancer]

scientific article published on 01 August 2006

[Increased incidence of testicular dysgenesis?]

artículo científico publicado en 2006

[Screening for hereditary hemochromatosis?]

artículo científico publicado en 2005