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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
Juvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime...
Choices for cancer prevention for women with a BRCA1 mutation? a personal view
Choices for cancer prevention for women with a BRCA1 mutation? a personal view
With widespread testing for susceptibility genes, increasing numbers of women are being identified to carry a mutation in ...
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, ...
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
“Go ahead and screen” - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). Universal tumor screening (UTS) of newl...
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
BRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas l...
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience
In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrom...
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Lynch Syndrome (LS) is an autosomal dominant inheritance disorder characterized by genetic predisposition to develop cance...
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the...
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
Prostate cancer is one of the most heritable human cancers. Lynch syndrome is an autosomal dominant inheritance caused by ...
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointe...
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families
Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families
Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic suscept...
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
WNT signaling is pivotal in embryogenesis and tissue homeostasis. Aberrant WNT signaling, due to mutations in components o...
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome
Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome
High-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival,...
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan
: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis...
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
Synchronous endometrial and ovarian cancer (SEOC) accounts for 50–70% of all synchronous gynecology cancers in women...
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”
Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”
Cieszyńska Monika1, Kluźniak Wojciech1, Wokołorczyk Dominika1, Cybulski Cezary1, Huzarski Tomasz1,2, Gronwald Jacek1, Falc...
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tra...
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosoma...
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes. Analysis of a pediatric osteosarc...
Genetic testing for hereditary breast cancer in Poland: 1998–2022
Genetic testing for hereditary breast cancer in Poland: 1998–2022
BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of pat...
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield again...
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic
The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person ...
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
Although Singapore is one of the highest vaccinated countries in the world, vaccine hesitancy remains in a subpopulation, ...
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience
Pathological complete response to neoadjuvant chemotherapy in triple negative breast cancer – single hospital experience
Triple-negative breast cancer is a heterogeneous molecular subtype of BC. Pathological complete response (pCR) is an impor...
Are population level familial risks and germline genetics meeting each other?
Are population level familial risks and germline genetics meeting each other?
Large amounts of germline sequencing data have recently become available and we sought to compare these results with popul...
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Colorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for appro...
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer
The complementary roles of genome-wide approaches in identifying genes linked to an inherited risk of colorectal cancer
The current understanding of the inherited risk of colorectal cancer (CRC) started with an observational clinical era in t...
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study
Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study
Women carrying BRCA1/2 pathogenic variants are exposed to elevated risks of developing breast cancer (BC) and are faced by...
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code
The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code
A brief description of why and for which purposes the Prospective Lynch Syndrome Database was established, the principles ...
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC coh...
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