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Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
ConclusionsOur findings show thatBRCA1/2 mutations account for one in four cases of hereditary breast/ovarian cancer, one in five cases of male breast cancer, and one in eight cases of early-onset breast cancer in Pakistan. Our study suggests genetic testing of an extended panel of 21 recurrentBRCA1/2 mutations for appropriately selected patients and their families in Pakistan. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 10, 2019 Category: Cancer & Oncology Source Type: research

A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China
ConclusionsGenetic counseling and testing for ovarian cancer in China have fallen behind international trends. Innovative studies and practices are urgently needed to establish models for cancer screening, prevention and treatment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 9, 2019 Category: Cancer & Oncology Source Type: research

Outcomes of screening and surveillance in people with two parents affected by colorectal cancers: experiences from the Familial Bowel Cancer Service
ConclusionsThe prevalence rates for neoplasms, advanced neoplasms, and CRC in our current study were statistically significantly higher compared with those seen in average-risk populations. This supports the importance of more intensive screening for this subpopulation in preventing colorectal cancers, as well as pre-and early-cancerous neoplasms. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 15, 2019 Category: Cancer & Oncology Source Type: research

Patient-physician relationships, health self-efficacy, and gynecologic cancer screening among women with Lynch syndrome
ConclusionsThe data suggest that feeling efficacious about managing one ’s Lynch syndrome and screening is related to positive interactions and communication with one’s family physician. While this is encouraging, future research should examine educating both family physicians and patients about current guidelines for Lynch syndrome gynecological screening recommend ations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - August 12, 2019 Category: Cancer & Oncology Source Type: research

Germline c.1A & gt;C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report
ConclusionsTo the best of our knowledge, this is the first published report in which the c.1A  >  C; p.(Met1?) pathogenic variant in theSDHA is associated with a GIST.SDHA pathogenic variants increase the risk of paraganglioma, pheochromocytoma, GIST, pituitary adenoma and renal cancer in an autosomal dominant inherited condition named paraganglioma syndrome type 5. The absence of family history of tumors inSDHA pathogenic variants carriers could be related to its low penetrance. All patients diagnosed with WT GISTs should be referred to a hereditary cancer genetic counseling unit regardless of the age at presentati...
Source: Hereditary Cancer in Clinical Practice - August 8, 2019 Category: Cancer & Oncology Source Type: research

A focused 35-minute whole body MRI screening protocol for patients with von Hippel-Lindau disease
ConclusionsAnnual screening in VHL disease can be done in a rapid, safe and sensitive way by using a dedicated whole body MRI protocol; saving MRI examination time and limiting Gadolinium dose. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 28, 2019 Category: Cancer & Oncology Source Type: research

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies
ConclusionsAlthough limited by a small sample size, these results support a role of selected somatic variants and epigenetic mechanisms in the development of tumors inBRCA phenocopies. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 15, 2019 Category: Cancer & Oncology Source Type: research

Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia
ConclusionsIn this study we report the BRCA1 and BRCA2 spectrum of mutations and their distribution by regions in Colombia. Our results may help to design a diagnostic test including recurrent mutations for screening high risk to breast cancer families in Colombia. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 14, 2019 Category: Cancer & Oncology Source Type: research

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls
ConclusionThe lack of association of PVs inBRIP1 with OC by ORAdj is inconsistent with some previous literature and current management recommendations, highlighted by the significantly older age of OC onset forBRIP1 PV carriers compared to non-carriers. By reporting ORAdj, this study presents associations that reflect more informed genetic contributions to OC when compared to traditional count-based methods. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 14, 2019 Category: Cancer & Oncology Source Type: research

Colorectal carcinoma in the course of inflammatory bowel diseases
ConclusionsThis review shows an overview of the genetic and environmental factors that appear to influence both the occurrence of IBD and CRC with particular reference toNOD2 andTLRs as well as pro- and anti-inflammatory cytokines associated with tumor initiation and progression (encompassing both tumor invasion and metastases), as they constitute potential targets for therapeutic intervention. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 11, 2019 Category: Cancer & Oncology Source Type: research

Selected Abstracts from the 3rd European Hereditary Tumour Group Meeting (EHTG 2018)
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 3, 2019 Category: Cancer & Oncology Source Type: research

Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population
ConclusionResults obtained for thePALB2 gene variants are able to supplement evidence on the allele frequency in breast cancer patients from the region of Central and Eastern Europe. Based on our results we cannot confirm the contribution of theRECQL variant c.1667_1667+3delAGTA allele to breast cancer development. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 2, 2019 Category: Cancer & Oncology Source Type: research

Examining intrafamilial communication of colorectal cancer risk status to family members and kin responses to colonoscopy: a qualitative study
ConclusionsIn the absence of barriers such as cost and accessibility, this Canadian sample still reported several challenges to disclosure and colonoscopy adherence. Future research should explore interventions such as motivational interviewing to improve proband disclosure and to increase FDR adherence to colonoscopy. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 25, 2019 Category: Cancer & Oncology Source Type: research

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
ConclusionsWe conclude that mRNA analyses are useful in characterization of variants that may affect splicing. The results can guide classification of variants from unknown clinical significance to pathogenic or benign in a diagnostic laboratory, and thus be of direct clinical importance. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 21, 2019 Category: Cancer & Oncology Source Type: research

Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
ConclusionsThis is the first case of metastatic inguinal serous adenocarcinoma in a woman with Lynch syndrome shortly after surgical treatment of stage I endometrioid EC. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 20, 2019 Category: Cancer & Oncology Source Type: research