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Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
Two independent families with de novo whole APC gene deletion and intellectual disability: a case report
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of...
Clinician perspectives on designing and implementing a hereditary cancer transition clinic
Clinician perspectives on designing and implementing a hereditary cancer transition clinic
Early identification of hereditary cancer predisposition in adolescents and young adults represents a unique opportunity t...
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
Germline TP53 gene variants are intricately linked to Li-Fraumeni syndrome, a rare and aggressive hereditary cancer syndro...
Universal testing in endometrial cancer in Sweden
Universal testing in endometrial cancer in Sweden
The aim of the study was to test a universal screening strategy on endometrial cancer to evaluate its effectiveness to fin...
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study
Adrenal tumours are associated with familial adenomatous polyposis (FAP). In the literature, most studies use the clinical...
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions
Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defe...
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Preoperative multimodal ultrasonic imaging in a case of Peutz-Jeghers syndrome complicated by atypical lobular endocervical glandular hyperplasia: a case report and literature review
Peutz-Jeghers syndrome (PJS), an autosomal dominant multiple cancerous disorder, is clinically characterized by mucocutane...
Current prospects of hereditary adrenal tumors: towards better clinical management
Current prospects of hereditary adrenal tumors: towards better clinical management
Adrenocortical carcinoma (ACC) and pheochromocytoma/paraganglioma (PPGL) are two rare types of adrenal gland malignancies....
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes
Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma path...
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome
Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated scr...
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...
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