Hereditary risk of breast and ovarian cancer: BRCA1 and BRCA2
Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › fagfællebedømt
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Hereditary risk of breast and ovarian cancer : BRCA1 and BRCA2. / Sørensen, Claus Storgaard.
Encyclopedia of Cancer. Elsevier, 2018. s. 214-217.Publikation: Bidrag til bog/antologi/rapport › Bidrag til bog/antologi › Forskning › fagfællebedømt
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TY - CHAP
T1 - Hereditary risk of breast and ovarian cancer
T2 - BRCA1 and BRCA2
AU - Sørensen, Claus Storgaard
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Germline genetic abnormalities in the tumor suppressors BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC) in an autosomal-dominant manner. BRCA1 and BRCA2 are important for DNA repair, when mutated, chromosomal DNA accumulates further mutations that fuels tumorigenesis. Clinical genetic laboratory testing of individuals at risk identifies HBOC predisposing gene variants, which is crucial to guide between several management options for the condition. Furthermore, precise information regarding pathogenic variants supports treatment choices in the event of cancer development.
AB - Germline genetic abnormalities in the tumor suppressors BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC) in an autosomal-dominant manner. BRCA1 and BRCA2 are important for DNA repair, when mutated, chromosomal DNA accumulates further mutations that fuels tumorigenesis. Clinical genetic laboratory testing of individuals at risk identifies HBOC predisposing gene variants, which is crucial to guide between several management options for the condition. Furthermore, precise information regarding pathogenic variants supports treatment choices in the event of cancer development.
KW - BRCA1
KW - BRCA2
KW - Breast cancer
KW - Genetic counseling
KW - Genetic testing
KW - Homologous recombination DNA repair
KW - Ovarian cancer
KW - PALB2
KW - PARP inhibition
KW - Risk assessment
UR - http://www.scopus.com/inward/record.url?scp=85079110117&partnerID=8YFLogxK
U2 - 10.1016/B978-0-12-801238-3.65227-3
DO - 10.1016/B978-0-12-801238-3.65227-3
M3 - Book chapter
AN - SCOPUS:85079110117
SP - 214
EP - 217
BT - Encyclopedia of Cancer
PB - Elsevier
ER -
ID: 251833367