List of works - Ulf Kristoffersson

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene

scientific article

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A stroke gene panel for whole-exome sequencing

article

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

scientific article published on 22 November 2017

An excess of chromosome 1 breakpoints in male infertility

article

An update of a classical textbook.

scientific article published on 11 February 2016

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

scientific article

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.

scientific article

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

scientific article published on 21 March 2011

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

scientific article

Clinical Cancer Genetic Service in Sweden

scientific article

Community genetics. Its definition 2010.

scientific article

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

scientific article

Definitions of genetic testing in European legal documents ⬇️

scientific article published on January 26, 2012

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

scientific article

Editorial: Genetics and Democracy ⬇️

scientific article published on March 9, 2012

Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden

scientific article published on 20 February 2008

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer

scientific article published on 24 January 2017

EuroGentest: DNA-based testing for heritable disorders in Europe.

scientific article published on 17 January 2008

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Frequency of RET mutations in long- and short-segment Hirschsprung disease

scientific article published on 01 January 1997

From Mendel to Medical Genetics

scientific article published in December 2017

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers' practices

scientific article

Genetic education and nongenetic health professionals: educational providers and curricula in Europe

scientific article published on 01 May 2005

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

scientific article

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genetics and democracy-what is the issue?

scientific article published on 25 July 2012

Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives

scientific article published on 30 October 2017

High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer

scientific article

Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man

article

Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status

scientific article published on 30 January 2014

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

scientific article

Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey

scientific article published on 31 May 2012

Provision of genetic services in Europe: current practices and issues

scientific article published on December 2003

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

scientific article

Regulation of genetic testing in clinical practice

scientific article published on 01 January 2004

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

scientific article published on 14 May 2008

Regulatory issues for genetic testing in clinical practice

scientific article published on 13 February 2008

Report of an international survey of molecular genetic testing laboratories

scientific article published in January 2007

Scope of definitions of genetic testing: evidence from a EuroGentest survey ⬇️

scientific article published on March 16, 2010

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

scientific article

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports ⬇️

scientific article published on February 25, 2012

Utvidgad anlagsbärartestning kan bredda fosterdiagnostiken - Recessiva sjukdomsanlag kan kartläggas hos friska personer inför planerad graviditet

scientific article published in February 2018

What is ideal genetic counselling? A survey of current international guidelines

scientific article published on 16 January 2008

[An ethical dilemma: pharmacogenetic tests can yield unwanted information]

scientific article published on 01 June 2003

List of works by Ulf Kristoffersson

A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

A stroke gene panel for whole-exome sequencing

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.

An excess of chromosome 1 breakpoints in male infertility

An update of a classical textbook.

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Clinical Cancer Genetic Service in Sweden

Community genetics. Its definition 2010.

Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

Definitions of genetic testing in European legal documents ⬇️

Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases

Editorial: Genetics and Democracy ⬇️

Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden

Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer

EuroGentest: DNA-based testing for heritable disorders in Europe.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Frequency of RET mutations in long- and short-segment Hirschsprung disease

From Mendel to Medical Genetics

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers' practices

Genetic education and nongenetic health professionals: educational providers and curricula in Europe

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

Genetics and democracy-what is the issue?

Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study: experiences from re-contacting mutation carriers and relatives

High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer

Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man

Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: a population-based survey

Provision of genetic services in Europe: current practices and issues

Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics

Regulation of genetic testing in clinical practice

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

Regulatory issues for genetic testing in clinical practice

Report of an international survey of molecular genetic testing laboratories

Scope of definitions of genetic testing: evidence from a EuroGentest survey ⬇️

Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports ⬇️

Utvidgad anlagsbärartestning kan bredda fosterdiagnostiken - Recessiva sjukdomsanlag kan kartläggas hos friska personer inför planerad graviditet

What is ideal genetic counselling? A survey of current international guidelines

[An ethical dilemma: pharmacogenetic tests can yield unwanted information]