umu.sePublikasjoner
Endre søk
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.ORCID-id: 0000-0002-4028-8796
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.ORCID-id: 0000-0003-2441-2395
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.ORCID-id: 0000-0002-5046-1820
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
2019 (engelsk)Inngår i: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 18, nr 1, s. 37-42Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers. Among the confirmed carriers, 27 women (51%) were diagnosed with breast cancer, 10 (19%) with ovarian cancer, 5 (9%) with breast and ovarian cancer and 17 (32%) without cancer. Nine women (17%) with breast cancer were 35 years or younger at diagnose. Also, two cases of early onset colon cancer were found, and 37,5% of the male carriers were diagnosed with prostate cancer. These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation.

sted, utgiver, år, opplag, sider
Springer, 2019. Vol. 18, nr 1, s. 37-42
Emneord [en]
BRCA1, BRCA1 ins6kbEx13, Breast cancer, Ovarian cancer, Prostate cancer, Colon cancer
HSV kategori
Identifikatorer
URN: urn:nbn:se:umu:diva-155774DOI: 10.1007/s10689-018-0098-yISI: 000455137200005PubMedID: 30136106OAI: oai:DiVA.org:umu-155774DiVA, id: diva2:1283104
Forskningsfinansiär
Västerbotten County CouncilTilgjengelig fra: 2019-01-28 Laget: 2019-01-28 Sist oppdatert: 2019-01-28bibliografisk kontrollert

Open Access i DiVA

fulltext(1038 kB)58 nedlastinger
Filinformasjon
Fil FULLTEXT01.pdfFilstørrelse 1038 kBChecksum SHA-512
bf826f7683da2adfa34f76d4280f256005a5c2027127fa044448d65616c2487bf734f127a092d471dc99bb7d42beb98c47c853cb37026b8004d59c7aed2bf961
Type fulltextMimetype application/pdf

Andre lenker

Forlagets fulltekstPubMed

Personposter BETA

Edwinsdotter Ardnor, ChristinaRosén, AnnaLjuslinder, IngridMelin, Beatrice S.

Søk i DiVA

Av forfatter/redaktør
Edwinsdotter Ardnor, ChristinaRosén, AnnaLjuslinder, IngridMelin, Beatrice S.
Av organisasjonen
I samme tidsskrift
Familial Cancer

Søk utenfor DiVA

GoogleGoogle Scholar
Totalt: 58 nedlastinger
Antall nedlastinger er summen av alle nedlastinger av alle fulltekster. Det kan for eksempel være tidligere versjoner som er ikke lenger tilgjengelige

doi
pubmed
urn-nbn

Altmetric

doi
pubmed
urn-nbn
Totalt: 202 treff
RefereraExporteraLink to record
Permanent link

Direct link
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annet format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annet språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf