User profiles for "author:Lone Sunde"

Lone Sunde

MD, PhD, Professor, Institute of Biomedicine, Aarhus University
Verified email at rm.dk
Cited by 8564

The risk of extra‐colonic, extra‐endometrial cancer in the Lynch syndrome

P Watson, HFA Vasen, JP Mecklin… - … journal of cancer, 2008 - Wiley Online Library
Persons with the Lynch syndrome (LS) are at high risk for cancer, including cancers of the
small bowel, stomach, upper urologic tract (renal pelvis and ureter), ovary, biliary tract and …

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

P Møller, TT Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2018 - gut.bmj.com
Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now
survive both their first and subsequent cancers, resulting in a growing number of older …

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome …

P Møller, T Seppälä, I Bernstein, E Holinski-Feder… - Gut, 2017 - gut.bmj.com
Objective Estimates of cancer risk and the effects of surveillance in Lynch syndrome have
been subject to bias, partly through reliance on retrospective studies. We sought to establish …

[HTML][HTML] Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

M Dominguez-Valentin, JR Sampson, TT Seppälä… - Genetics in …, 2020 - nature.com
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …

17q12 deletion and duplication syndrome in Denmark—a clinical cohort of 38 patients and review of the literature

M Rasmussen, EM Vestergaard… - American journal of …, 2016 - Wiley Online Library
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations
usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass …

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general …

AC Antoniou, X Wang, ZS Fredericksen, L McGuffog… - Nature …, 2010 - nature.com
Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this
risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 …

Multilocus inherited neoplasia alleles syndrome: a case series and review

J Whitworth, AB Skytte, L Sunde, DH Lim… - JAMA …, 2016 - jamanetwork.com
Mendelian causes of inherited cancer susceptibility are mostly rare and characterized by
variable expression and incomplete penetrance. Phenotypic variability may result from a …

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

S Aretz, D Stienen, S Uhlhaas, M Stolte… - Journal of medical …, 2007 - jmg.bmj.com
Background: In patients with juvenile polyposis syndrome (JPS) the frequency of large
genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods: Mutation and …

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

AC Antoniou, J Beesley, L McGuffog, OM Sinilnikova… - Cancer research, 2010 - AACR
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1,
LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation …

[HTML][HTML] Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

J Lecarpentier, V Silvestri… - Journal of Clinical …, 2017 - ncbi.nlm.nih.gov
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men.
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …