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The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening
ConclusionsIn this study, immunohistochemical screening of MMR proteins for Lynch syndrome was performed in a series of prostate cancer cases. The prevalence of Lynch syndrome in localized prostate cancer was 0.8%, which is low compared with other Lynch syndrome-associated cancers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 12, 2023 Category: Cancer & Oncology Source Type: research

Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement
AbstractThe recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genesMSH2, MLH1, MSH6 andPMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of theseMMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear p...
Source: Hereditary Cancer in Clinical Practice - October 11, 2023 Category: Cancer & Oncology Source Type: research

Periampullary tumors in a patient with pancreatic divisum and neurofibromatosis type 1: a case report
ConclusionThe first similar case was reported in 2020. The current case was distinct from other cases since an additional twoNF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 29, 2023 Category: Cancer & Oncology Source Type: research

Familial pancreatic cancer: a case study and review of the psychosocial effects of diagnoses on families
ConclusionsThe psychosocial effects of FPC may be overwhelming for patients and families. Healthcare providers can offer education, support, and referrals to appropriate services to help families cope through stages of evaluation, diagnosis, and treatment of FPC. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 8, 2023 Category: Cancer & Oncology Source Type: research

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia
ConclusionsAlthough the number of missing teeth is less severe in our patient than in some previously reported cases, our findings provide additional evidence that missing teeth and gastrointestinal neoplasia are associated with rare pathogenicAXIN2 germline mutations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 25, 2023 Category: Cancer & Oncology Source Type: research

Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome
ConclusionFemale sex as well as a personal history of cancer were associated with longer duration of adherence to recommended high-risk surveillance among patients with LFS. Identification of barriers to surveillance will be essential moving forward to increase adherence and promote early detection of cancer, thereby reducing the morbidity and mortality of LFS. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 11, 2023 Category: Cancer & Oncology Source Type: research

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
ConclusionsMA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 17, 2023 Category: Cancer & Oncology Source Type: research

Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
ConclusionsThe presented case contributes to the etiology of LLS and confirms the need for specific genetic testing, together with genetic counseling, in hereditary cancer syndromes. The use of combined information from clinicians, pathologists, genetic counselors, and data from NGS testing for cancer predisposition, clinical surveillance, and follow-up management in women with gynecology cancers, especially SEOC, could be improved. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 14, 2023 Category: Cancer & Oncology Source Type: research

Meeting abstracts from the Annual Conference “Clinical Genetics of Cancer 2022”
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 12, 2023 Category: Cancer & Oncology Source Type: research

Genotype –phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
ConclusionPhenotypic characteristics cannot be used to inform variant location inBMPR1a. However, the phenotypic characteristics ofBMPR1a DCV carriers, being almost exclusively related to the colon and rectum, can assist in pathogenicity assessment ofBMPR1a variants.Given these findings, we propose that carriers ofBMPR1a DCVs should only require surveillance for colorectal polyps and malignancy, and that surveillance for gastric polyps and malignancy may be unnecessary. However variant location withinBMPR1a does not support differential surveillance recommendations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 3, 2023 Category: Cancer & Oncology Source Type: research

BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
AbstractA founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such asBRCA1/2, the identification of founder variants in a certain population could help designing customized cost-effective cancer screening panels. This advantage has been best utilized in designing a customized breast cancerBRCA screening panel for the Ashkenazi Jews (AJ) population,...
Source: Hereditary Cancer in Clinical Practice - July 3, 2023 Category: Cancer & Oncology Source Type: research

Genetic testing for hereditary breast cancer in Poland: 1998 –2022
AbstractBRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation inBRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the region of Pomerania of North-western Poland nearly half a million tests have been performed, in large part through engaging family doctors and providing ready access to testing through the Pomeranian Medical University. The fo...
Source: Hereditary Cancer in Clinical Practice - June 13, 2023 Category: Cancer & Oncology Source Type: research

Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma
ConclusionsOur data suggest that the LS cancer spectrum may include childhood cancer. The importance of LS in pediatric cancers necessitates prospective data collection. Comprehensive molecular workup of tumor samples is necessary to explore the causal role of germline genetic variants. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 12, 2023 Category: Cancer & Oncology Source Type: research

Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres
AbstractThe end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cell division ‒ is shortened. Inherited genetic variants causetelomere biology disorders when located in genes (e.g.DKC1,RTEL1,TERC,TERT) playing a role in the function and maintenance of the telomeres. Subsequently patients with telomere biology disorders associated with both too short or too long telomeres have been recognized. Patients with telomere biology disorders associated with short telomeres are at ...
Source: Hereditary Cancer in Clinical Practice - May 15, 2023 Category: Cancer & Oncology Source Type: research

Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic
ConclusionsCompared to in-person GI-CREP appointments, telemedicine was associated with lower rates of genetic testing completion, and longer turnaround time for results. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 8, 2023 Category: Cancer & Oncology Source Type: research