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Extended genetic an...
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
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- Öfverholm, Anna (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology,Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden,Univ Gothenburg, Inst Clin Sci, Sahlgrenska Acad, Dept Oncol, Gothenburg, Sweden.
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- Törngren, Therese (författare)
- Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Lund Univ, Sweden
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- Rosén, Anna, 1975- (författare)
- Umeå University,Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci Oncol, Umeå, Sweden.
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- Arver, B. (författare)
- Karolinska Institute,Karolinska Inst, Sweden
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- Einbeigi, Zakaria, 1962 (författare)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology,Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Göteborg, Sweden; Department of Medicine and Oncology, Southern Älvsborg Hospital, Borås, Sweden,Univ Gothenburg, Inst Clin Sci, Sahlgrenska Acad, Dept Oncol, Gothenburg, Sweden.;Southern Alvsborg Hosp, Dept Med & Oncol, Borås, Sweden.
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- Paulsson-Karlsson, Ylva (författare)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Uppsala University Hospital,Uppsala Univ Hosp, Sweden
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- Kvist, Anders (författare)
- Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Lund Univ, Sweden
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- Kuchinskaya, Ekaterina (författare)
- Linköpings universitet,Linköping University,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Region Östergötland, Klinisk patologi,Karolinska Inst, Sweden
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- Lindblom, A. (författare)
- Karolinska Institutet,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Melin, Beatrice S. (författare)
- Umeå University,Umeå universitet,Onkologi,Umeå Univ, Dept Radiat Sci Oncol, Umeå, Sweden.
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Paulsson-Karlsson, Y. (författare)
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- Stenmark-Askmalm, Marie (författare)
- Linköpings universitet,Linköping University,Region Skåne,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Region Östergötland, Klinisk patologi,Off Med Serv Reg Skane, Sweden
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- Tham, E. (författare)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- von Wachenfeldt, A. (författare)
- Department of Clinical Science and Education at Södersjukhuset, Karolinska Institutet, Stockholm, Sweden; Department of Oncology, Södersjukhuset, Stockholm, Sweden,Karolinska Inst, Dept Clin Sci & Educ Sodersjukhuset, Stockholm, Sweden.;Soder Sjukhuset, Dept Oncol, Stockholm, Sweden.,Stockholm South General Hospital
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Kvist, A. (författare)
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- Borg, Åke (författare)
- Lund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Lund Univ, Sweden
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- Ehrencrona, Hans (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Region Skåne,Off Med Serv Reg Skane, Sweden; Lund Univ, Sweden
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- Haraldsson, Karin (författare)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Lund Univ, Sweden
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- Stahlbom, Anne Kinhult (författare)
- Karolinska Univ Hosp Solna, Sweden
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(creator_code:org_t)
- BioMed Central (BMC), 2023
- 2023
- Engelska.
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Ingår i: BMC Cancer. - : BioMed Central (BMC). - 1471-2407. ; 23:1
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://uu.diva-port... (primary) (Raw object)
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http://dx.doi.org/10... (free)
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https://liu.diva-por... (primary) (Raw object)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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https://lup.lub.lu.s...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- BackgroundGenetic screening for pathogenic variants (PVs) in cancer predisposition genes can affect treatment strategies, risk prediction and preventive measures for patients and families. For decades, hereditary breast and ovarian cancer (HBOC) has been attributed to PVs in the genes BRCA1 and BRCA2, and more recently other rare alleles have been firmly established as associated with a high or moderate increased risk of developing breast and/or ovarian cancer. Here, we assess the genetic variation and tumor characteristics in a large cohort of women with suspected HBOC in a clinical oncogenetic setting.MethodsWomen with suspected HBOC referred from all oncogenetic clinics in Sweden over a six-year inclusion period were screened for PVs in 13 clinically relevant genes. The genetic outcome was compared with tumor characteristics and other clinical data collected from national cancer registries and hospital records.ResultsIn 4622 women with breast and/or ovarian cancer the overall diagnostic yield (the proportion of women carrying at least one PV) was 16.6%. BRCA1/2 PVs were found in 8.9% of women (BRCA1 5.95% and BRCA2 2.94%) and PVs in the other breast and ovarian cancer predisposition genes in 8.2%: ATM (1.58%), BARD1 (0.45%), BRIP1 (0.43%), CDH1 (0.11%), CHEK2 (3.46%), PALB2 (0.84%), PTEN (0.02%), RAD51C (0.54%), RAD51D (0.15%), STK11 (0) and TP53 (0.56%). Thus, inclusion of the 11 genes in addition to BRCA1/2 increased diagnostic yield by 7.7%. The yield was, as expected, significantly higher in certain subgroups such as younger patients, medullary breast cancer, higher Nottingham Histologic Grade, ER-negative breast cancer, triple-negative breast cancer and high grade serous ovarian cancer. Age and tumor subtype distributions differed substantially depending on genetic finding.ConclusionsThis study contributes to understanding the clinical and genetic landscape of breast and ovarian cancer susceptibility. Extending clinical genetic screening from BRCA1 and BRCA2 to 13 established cancer predisposition genes almost doubles the diagnostic yield, which has implications for genetic counseling and clinical guidelines. The very low yield in the syndrome genes CDH1, PTEN and STK11 questions the usefulness of including these genes on routine gene panels.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- BRCA1
- BRCA2
- Genetic testing
- Cancer
- Breast cancer
- Ovarian cancer
- Hereditary cancer
- Hereditary breast cancer
- Hereditary ovarian cancer
- mutation carriers
- brca1
- risks
- susceptibility
- metaanalysis
- carboplatin
- veliparib
- register
- Oncology
- BRCA1
- Humans
- Female
- BRCA1 Protein/genetics
- BRCA2 Protein/genetics
- Genetic Predisposition to Disease
- Breast Neoplasms/diagnosis
- Genetic Testing
- Ovarian Neoplasms/diagnosis
- Protein Serine-Threonine Kinases/genetics
- Triple Negative Breast Neoplasms/genetics
- Hereditary Breast and Ovarian Cancer Syndrome/diagnosis
- Germ-Line Mutation
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Öfverholm, Anna
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Törngren, Theres ...
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Rosén, Anna, 197 ...
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Arver, B.
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Einbeigi, Zakari ...
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Paulsson-Karlsso ...
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visa fler...
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Kvist, Anders
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Kuchinskaya, Eka ...
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Lindblom, A.
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Melin, Beatrice ...
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Paulsson-Karlsso ...
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Stenmark-Askmalm ...
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Tham, E.
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von Wachenfeldt, ...
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Kvist, A.
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Borg, Åke
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Ehrencrona, Hans
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Haraldsson, Kari ...
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Stahlbom, Anne K ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
- Artiklar i publikationen
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BMC Cancer
- Av lärosätet
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Göteborgs universitet
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Umeå universitet
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Uppsala universitet
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Lunds universitet
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Karolinska Institutet
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Linköpings universitet