Managing gastric cancer risk in lynch syndrome: controversies and recommendations
(Source: Familial Cancer)
Source: Familial Cancer - February 21, 2021 Category: Cancer & Oncology Source Type: research

The needs of Southeast Asian BRCA mutation carriers considering risk-reducing salpingo-oophorectomy: a qualitative study
This study aimed to explore the decision-making needs of Malaysian BRCA mutation carriers as an exemplar for the Southeast Asian community. In-depth interviews and clinic observations were conducted with 31 BRCA mutation carriers and analysed thematically. The core theme identified was ‘Coping with complex information and alleviating uncertainties’ with the following subthemes: (1) the need for an adjustment period, (2) information support, (3) social support and, (4) religious support. We found that women required time to accept their BRCA mutation status before they were rea dy to make a risk-reducing choice; that un...
Source: Familial Cancer - February 19, 2021 Category: Cancer & Oncology Source Type: research

Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer
(Source: Familial Cancer)
Source: Familial Cancer - February 12, 2021 Category: Cancer & Oncology Source Type: research

Approach to screening for Familial Adenomatous Polyposis (FAP) in a cohort of 226 patients with Desmoid-type Fibromatosis (DF): experience of a specialist center in the UK
ConclusionsCTNNB1 ± APC testing and colonoscopy are useful tools for the screening of patients with DF.CTNNB1 molecular testing should be performed in all cases of newly diagnosed DF. NegativeCTNNB1 results, alongside clinical assessment, should promptAPC testing and/or colonoscopy. (Source: Familial Cancer)
Source: Familial Cancer - February 6, 2021 Category: Cancer & Oncology Source Type: research

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
AbstractThe rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e.SMARCB1 (RTPS1) andSMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs inSMARCB1 andSMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterize...
Source: Familial Cancer - February 3, 2021 Category: Cancer & Oncology Source Type: research

Genetic predisposition to prostate cancer: an update
AbstractImprovements in DNA sequencing technology and discoveries made by large scale genome-wide association studies have led to enormous insight into the role of genetic variation in prostate cancer risk. High-risk prostate cancer risk predisposition genes exist in addition to common germline variants conferring low-moderate risk, which together account for over a third of familial prostate cancer risk. Identifying men with additional risk factors such as genetic variants or a positive family history is of clinical importance, as men with such risk factors have a higher incidence of prostate cancer with some evidence to ...
Source: Familial Cancer - January 24, 2021 Category: Cancer & Oncology Source Type: research

Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis
We present fourBRCA2 splice site variants with complex variant interpretations (BRCA2 c.68-3T>G, c.68-2A>G, c.425G>T, c.8331+2T>C). Evidence supporting a pathogenic classification is available for each variant, including in silico models, absence in population databases, and published functional data. However, comprehensive RNA analysis showed that some functional transcript may be produced by each variant.BRCA2 c.68-3T>G results in a partial splice defect. ForBRCA2 c.68-2A>G and c.425G>T, aberrant splicing was shown to produce a potentially functional, in-frame transcript.BRCA2 c.8331+2T>C may util...
Source: Familial Cancer - January 20, 2021 Category: Cancer & Oncology Source Type: research

Progress Report: New insights into the prevention of CRC by colonoscopic surveillance in Lynch syndrome
In this report, we will discuss the implications of these new findings for the development of new surveillance protocols. (Source: Familial Cancer)
Source: Familial Cancer - January 19, 2021 Category: Cancer & Oncology Source Type: research

Comparison of universal screening in major lynch-associated tumors: a systematic review of literature
AbstractLynch syndrome (LS) is associated with an increased lifetime risk of several cancers including colorectal (CRC), endometrial (EC), ovarian (OC), urinary (UT) and sebaceous tumors (ST). The benefit for universal screening in CRC and EC is well known. However, this benefit in other major lynch-associated tumors is unclear. We performed a systematic review of all published articles in the MEDLINE database between 2005 to 2017 to identify studies performing universal screening for LS in unselected CRC, EC, OC, UT and ST. All cases with MSI-H (instability in two or more markers) or missing one or more proteins on IHC te...
Source: Familial Cancer - January 11, 2021 Category: Cancer & Oncology Source Type: research

The CAPP II trial of aspirin in Lynch syndrome/HNPCC: is it time for everyone to be treated?
(Source: Familial Cancer)
Source: Familial Cancer - January 9, 2021 Category: Cancer & Oncology Source Type: research

Genetic evaluation of patients and families with concern for hereditary endocrine tumor syndromes
AbstractHereditary endocrine tumor syndromes are rare conditions with overlapping features. It is imperative that healthcare providers differentiate between these syndromes for proper patient care. Advances in genetic testing technologies have increased utilization of genetic counseling and testing in this field; however, few endocrine cancer genetics clinics exist. Two years ago, a genetic counselor (GC) specializing in endocrine cancer genetics was added to the multidisciplinary team of the James Neuroendocrine/Thyroid Clinic at The Ohio State University. Here, we report on this experience. In total, 358 patients were se...
Source: Familial Cancer - January 7, 2021 Category: Cancer & Oncology Source Type: research

Atypical choroidal nevus in a subject with a germline PALB2 pathogenic variant
AbstractRecent evidence suggests thatPALB2 variants may increase risk for the development of uveal melanoma and uveal melanocytic neoplasms. Here we report a case of an atypical choroidal nevus in a patient with a personal history of cancer and pathogenicPALB2 germline variant. A 75-year-old white female presented with an elevated predominantly amelanotic choroidal lesion OS. On examination and ophthalmic imaging, the mass measured 8.8  mm × 6.5 mm × 1.5 mm. The mass showed predominantly medium to high reflectivity on diagnostic A-scan and acoustic hollowing on B-scan. OCT over the lesion showed no subretinal ...
Source: Familial Cancer - January 6, 2021 Category: Cancer & Oncology Source Type: research

Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom Syndrome
In the original article it was not clear that the senior authorship of this report is shared by D Schindler and S Meyer, reflecting the contributions made. The senior authorship should now be recognised as being shared. (Source: Familial Cancer)
Source: Familial Cancer - January 6, 2021 Category: Cancer & Oncology Source Type: research

Hereditary medullary thyroid carcinoma syndromes: experience from western India
AbstractThe data from the Indian subcontinent on Medullary thyroid carcinoma (MTC) and associated endocrinopathies in hereditary MTC (HMTC) syndromes are limited. Hence, we analyzed clinical and biochemical characteristics, management, and outcomes of HMTC and other associated endocrinopathies [Pheochromocytoma (PCC) and Primary hyperparathyroidism (PHPT)] and compared with apparently sporadic MTC. The records of 97 (51 sporadic and 46 hereditary) consecutive MTC patients were retrospectively analyzed.RET mutation was available in 38 HMTC patients. HMTC group was subclassified into Multiple endocrine neoplasia (MEN) 2A ind...
Source: Familial Cancer - January 4, 2021 Category: Cancer & Oncology Source Type: research

Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6  months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germlineBLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that bothBLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important g...
Source: Familial Cancer - November 21, 2020 Category: Cancer & Oncology Source Type: research