[PDF][PDF] CHEK2 is a multiorgan cancer susceptibility gene

…, B Masojć, M Mierzejewski, T Dębniak… - The American Journal of …, 2004 - cell.com
A single founder allele of the CHEK2 gene has been associated with predisposition to
breast and prostate cancer in North America and Europe. The CHEK2 protein participates in …

Genome-wide association study identifies three loci associated with melanoma risk

…, LA Cannon-Albright, T Chin-A-Woeng, T Dębniak… - Nature …, 2009 - nature.com
We report a genome-wide association study of melanoma conducted by the GenoMEL
consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with …

Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer

…, T Byrski, J Gronwald, B Masojć, T Dębniak… - Journal of Clinical …, 2011 - ascopubs.org
Purpose To estimate the risk of breast cancer in a woman who has a CHEK2 mutation
depending on her family history of breast cancer. Patients and Methods Seven thousand …

Genome-wide association study identifies three new melanoma susceptibility loci

…, LA Cannon-Albright, E Corda, AE Cust, T Dębniak… - Nature …, 2011 - nature.com
We report a genome-wide association study for melanoma that was conducted by the
GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and …

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

…, KP Burdon, WV Chen, V Codd, JE Craig, T Dębniak… - Nature …, 2020 - nature.com
Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis
genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly …

A high proportion of founder BRCA1 mutations in Polish breast cancer families

…, B Dębniak, A Rozmiarek, T Dębniak… - … journal of cancer, 2004 - Wiley Online Library
Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and
account for the majority of mutations identified to date in Polish breast and breast–ovarian …

Germline RECQL mutations are associated with breast cancer susceptibility

…, PN Tonin, F Rousseau, B Górski, T Dębniak… - Nature …, 2015 - nature.com
Several moderate-and high-risk breast cancer susceptibility genes have been discovered,
but more are likely to exist. To discover new breast cancer susceptibility genes, we used 2 …

Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis

…, A Jakubowska, M Szwiec, T Byrski, T Dębniak… - The Lancet …, 2015 - thelancet.com
Background Mutations in PALB2 predispose to breast cancer, but the effect on prognosis of
carrying a PALB2 mutation has not been ascertained. We aimed to estimate the odds ratio …

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21. 3

…, J Hansson, F Demenais, MT Landi, T Dębniak… - Nature …, 2011 - nature.com
We performed a genome-wide association study of melanoma in a discovery cohort of 2,168
Australian individuals with melanoma and 4,387 control individuals. In this discovery phase …

[PDF][PDF] Importance of microsatellite instability (MSI) in colorectal cancer: MSI as a diagnostic tool

G Kurzawski, J Suchy, T Dębniak, J Kładny… - Annals of …, 2004 - academia.edu
Mutations in DNA mismatch repair genes (such as MLH1, MSH2 or MSH6) result in a failure
to repair errors in repetitive sequences, leading to microsatellite instability (MSI) of the …