Sökning: id:"swepub:oai:DiVA.org:umu-155774" >
The BRCA1 exon 13 d...
The BRCA1 exon 13 duplication : clinical characteristics of 22 families in Northern Sweden
-
- Edwinsdotter Ardnor, Christina (författare)
- Umeå universitet,Onkologi,Arcum
-
- Rosén, Anna, 1975- (författare)
- Umeå universitet,Onkologi
-
- Ljuslinder, Ingrid, 1968- (författare)
- Umeå universitet,Onkologi
-
visa fler...
-
- Melin, Beatrice S. (författare)
- Umeå universitet,Onkologi,Arcum
-
visa färre...
-
(creator_code:org_t)
- 2018-08-22
- 2019
- Engelska.
-
Ingår i: Familial Cancer. - : Springer. - 1389-9600 .- 1573-7292. ; 18:1, s. 37-42
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://umu.diva-por... (primary) (Raw object)
-
https://link.springe...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- BRCA1
- BRCA1 ins6kbEx13
- Breast cancer
- Ovarian cancer
- Prostate cancer
- Colon cancer
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas