Polymorphisms in MMP-1 , MMP-2 , MMP-7, MMP-13 and MT2A do not contribute to breast, lung and colon cancer risk in polish population
ConclusionsAnalyses of polymorphisms, rs1799750 inMMP-1, rs243865 inMMP-2, rs11568818 inMMP-7, rs2252070 inMMP-13 and rs28366003 inMT2A in relation to serum Zn level did not show significant association with breast, lung and colon cancer risk among polish patients. Further studies are needed to verify this observation. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 31, 2020 Category: Cancer & Oncology Source Type: research

Informing patients about their mutation tests: CDKN2A c.256G & gt;A in melanoma as an example
ConclusionsThe pedigree data showed at the most a low penetrance variant, which, if taken into consideration, might have altered the provided diagnosis. When dealing with ‘practically’ unknown variants the counselors would be advised to incorporate a detailed family history rather than basing predictions on functionality provided by sequencing facilities. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 31, 2020 Category: Cancer & Oncology Source Type: research

An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - July 30, 2020 Category: Cancer & Oncology Source Type: research

Adherence to National Comprehensive Cancer Network Guidelines for BRCA testing among high risk breast Cancer patients: a retrospective chart review study
ConclusionsAdherence to NCCNBRCA testing guidelines is high in this group of predominantly medical oncologists with extensive experience, with a high proportion having a genetic counselor in practice. Testing rates can be improved in patients with risk factors related to male relatives. High level of compliance to guidelines in a community setting is possible with a delivery model for genetic counseling and testing. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 6, 2020 Category: Cancer & Oncology Source Type: research

Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients
ConclusionsThere seems to be an increased risk of both gastric cancer and uterine cancer in the families of gastric cancer survivors, indicating a possible hereditary connection between these two cancer types. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 5, 2020 Category: Cancer & Oncology Source Type: research

Correction to: Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
An amendment to this paper has been published and can be accessed via the original article. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 19, 2020 Category: Cancer & Oncology Source Type: research

Expectations and psychological issues before genetic counseling: analysis of distress determinant factors
ConclusionsGreater level of distress identified on females, single and younger subjects. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 29, 2020 Category: Cancer & Oncology Source Type: research

Development and validation of next generation sequencing based 35-gene hereditary cancer panel
ConclusionsThe use of targeted NGS-based multigene testing panels to provide comprehensive analysis of cancer susceptible genes has been considered a viable option. In the present study, we developed and validated a 35-gene panel for testing 8 common cancers using next-generation sequencing (NGS). The performance of our hereditary cancer panel is assessed across a board range of variants in the 35 genes to support clinical use. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 28, 2020 Category: Cancer & Oncology Source Type: research

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families
ConclusionsBased on functional and co-segregation data we classify theAPC c.289G>A, p.(Gly97Arg) variant as pathogenic (class 5). Our findings emphasize the importance of a functional evaluation of missense variants although located far from the exon-intron boundaries. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 7, 2020 Category: Cancer & Oncology Source Type: research

An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube
ConclusionWe present an interesting and quite rare case of two primary breast carcinomas in a patient with a knownBRCA2 pathogenic variant with metastasis in the fimbrial part of the left Fallopian tube. We conclude that there were two primary breast tumours and the one from 2011 spread into the fimbrial part of the left Fallopian tube in 2016. Despite the fact that molecular analyses could not confirm the joint tumour origin, we believe that there was a receptor status conversion over time explaining different receptor status. The possibility of a triple-negative metastasis from the tumour treated in 1998 is less probable...
Source: Hereditary Cancer in Clinical Practice - March 19, 2020 Category: Cancer & Oncology Source Type: research

The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care
AbstractThe aims of the Prospective Lynch Syndrome Database (PLSD) are to provide empirical prospectively observed data on the incidences of cancer in different organs, survival following cancer and the effects of interventions in carriers of pathogenic variants of the mismatch repair genes (path_MMR) categorized by age, gene and gender. Although PLSD is assumption-free, as with any study the ascertainment procedures used to identify the study cohort will introduce selection biases which have to be declared and considered in detail in order to provide robust and valid results. This paper provides a commentary on the method...
Source: Hereditary Cancer in Clinical Practice - March 14, 2020 Category: Cancer & Oncology Source Type: research

Diet, weight management, physical activity and Ovarian & amp; Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review
ConclusionsThere is not enough evidence to suggest tailored recommendations for dietary habits or weight management among women withBRCA1/2 pathogenic variants compared to the general population for ovarian and breast cancer risk-reduction, and physical activity recommendations should remain the same. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 7, 2020 Category: Cancer & Oncology Source Type: research

Ubiquitous neurocognitive dysfunction in familial adenomatous polyposis: proof-of-concept of the role of APC protein in neurocognitive function
AbstractBackgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by germline mutations in the APC gene. Patients with FAP have multiple extraintestinal manifestations that follow a genotype-phenotype pattern; however, few data exist characterizing their cognitive abilities. Given the role of the APC protein in development of the central nervous system, we hypothesized that patients with FAP would show differences in cognitive functioning compared to controls.MethodsMatched case-control study designed to evaluate cognitive function using the Test of Nonverbal Intelligence-4, the Bateria III Wo...
Source: Hereditary Cancer in Clinical Practice - February 24, 2020 Category: Cancer & Oncology Source Type: research

Group plus “mini” individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction
ConclusionsGroup pre-test genetic counselling combined with immediate “mini” individual session is strongly supported by patients and reduces wait times. Additional formal investigation of this approach in larger numbers of patients is warranted. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 19, 2020 Category: Cancer & Oncology Source Type: research

On the road with Henry Lynch
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 27, 2020 Category: Cancer & Oncology Source Type: research

Whole-body MRI within a surveillance program for carriers with clinically actionable germline TP53 variants - the Swedish constitutional TP53 study SWEP53
ConclusionsThe SWEP53 is the first structured national surveillance program including radiological and clinical routines forTP53 mutation carriers in the Scandinavian setting. The aim of this publication is to present and describe the ongoing Swedish surveillance study to encourage the initiation of similar studies and to contribute to the knowledge of adequate clinical handling of these cancer prone families.Trial registrationTrial registration number:ISRCTN13103571, retrospectively registered on 14/10/2019. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 13, 2020 Category: Cancer & Oncology Source Type: research

Serum selenium level and cancer risk: a nested case-control study
ConclusionsResults from this study suggest that suggest that the optimum serum level of selenium in women living in Poland should be between 70  μg/L and 90 μg/L. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 23, 2019 Category: Cancer & Oncology Source Type: research

Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
This study assesses trends in diagnosis of LS and adherence to recommended LS-related care in a large integrated healthcare organization (~  575,000 members).MethodsElectronic medical record (EMR) data (1999 –2015) were examined to identify patients with a diagnosis of LS. We examined their LS-associated care recommendations and adherence to these recommendations. Qualitative patient and provider interviews were conducted with the aim of identifying opportunities for improved care delivery.ResultsWe identified 74 patients with a diagnosis of LS; 64% were diagnosed with a LS-related malignancy prior to their di...
Source: Hereditary Cancer in Clinical Practice - December 16, 2019 Category: Cancer & Oncology Source Type: research

Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences
ConclusionsResearch is required to understand the clinical significance and proper management of diseases attributable to newly characterized hereditary cancer genes. Additional evaluation of patient and provider education should be at the forefront of efforts to improve patient care. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 16, 2019 Category: Cancer & Oncology Source Type: research

Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program
ConclusionsParticipants reported multiple benefits of genetic counselling and testing but continue to seek greater clarification about their individual PC risk. Extension of PancPRO is required to enable personalised PC risk assessment for all high-risk sub-groups. More detailed discussion of PC risk forBRCA2 pathogenic variant carriers, providing a written summary in all cases and a plan for genetics review were identified as areas for improvement. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 23, 2019 Category: Cancer & Oncology Source Type: research

Prevalence and spectrum of MLH1 , MSH2 , and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients
ConclusionPathogenic/likely pathogenicMLH1/MSH2 variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 23, 2019 Category: Cancer & Oncology Source Type: research

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
AbstractBackgroundWe previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.MethodsThe Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Onlypath_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable...
Source: Hereditary Cancer in Clinical Practice - October 14, 2019 Category: Cancer & Oncology Source Type: research

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 11, 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 10, 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 16, 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 13, 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 ...
Source: Hereditary Cancer in Clinical Practice - August 9, 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 29, 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 16, 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 15, 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 15, 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 12, 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 4, 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 3, 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 26, 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 22, 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 21, 2019 Category: Cancer & Oncology Source Type: research

The effect of neoadjuvant platinum-based chemotherapy in BRCA mutated triple negative breast cancers -systematic review and meta-analysis
ConclusionsThis meta-analysis shows that the addition of platinum to chemotherapy regimens in the neoadjuvant setting increases pCR rate inBRCA – mutated as compared to wild-type TNBC patients. However, this trend did not achieve statistical significance.Trial registrationCRD42018092341 (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 25, 2019 Category: Cancer & Oncology Source Type: research

Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature
AbstractBackgroundNeurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women
Source: Hereditary Cancer in Clinical Practice - March 25, 2019 Category: Cancer & Oncology Source Type: research

Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy
ConclusionsThe mean age of cancer diagnosis and the mean time periods from RRSO to the diagnosis of cancer are similar to those observed by other researchers. The carriers of c.181T  >  G and c.5266dupCBRCA1 mutation should be the subject further studies in context of breast and peritoneal cancer risk or time of cancer development after RRSO, respectively. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 14, 2019 Category: Cancer & Oncology Source Type: research

Single-center study of Lynch syndrome screening in colorectal polyps
ConclusionImmunohistochemical detection of colorectal polyp mismatch repair protein as Lynch syndrome screening efficiency is low. Effective screening strategies may be improved by optimizing patient/polyp selection, such as focusing on young adenoma patients with a family history of cancer, or patients who present with high-risk features (large size, villous, high-grade dysplasia and malignant components). (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 12, 2019 Category: Cancer & Oncology Source Type: research

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
ConclusionsThe CRC stage and interval since last colonoscopy were not correlated, which is in conflict with the accelerated adenoma-carcinoma paradigm. We have previously reported that more frequent colonoscopy is not associated with lower incidence of CRC inpath_MMR carriers as was expected. In contrast, point estimates showed a higher incidence with shorter intervals between examinations, a situation that may parallel to over-diagnosis in breast cancer screening. Our findings raise the possibility that some CRCs inpath_MMR carriers may spontaneously disappear: the host immune response may not only remove CRC precursor le...
Source: Hereditary Cancer in Clinical Practice - February 28, 2019 Category: Cancer & Oncology Source Type: research

BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer
ConclusionA tailored two-day psychoeducational workshop may be sufficient to improve the way young women with BRCA mutations deal with the implications of HBOC risk.Trial registrationBRACAVENIR was registered inClinicalTrials.gov with no NCT02705924. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 27, 2019 Category: Cancer & Oncology Source Type: research

Meeting abstracts from the Annual Conference Clinical Genetics of Cancer 2018
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 1, 2019 Category: Cancer & Oncology Source Type: research

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
ConclusionsThe gene panel identified the genetic cause in some prescreened, unexplained HTS patients and generated incidental findings. Some patients harbored predicted pathogenic mutations in more than one established HTS gene, rendering interpretation of the respective alterations challenging. Established moderate risk genes showed an almost equal distribution among patients with known and unexplained disease. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 23, 2019 Category: Cancer & Oncology Source Type: research

Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)
ConclusionsOverall, our findings reclassify several index cases into different HCS, and change the mutational status of 14 cases from non-informative to gene mutation carriers. In conclusion, we highlight the necessity of incorporating validated multi-gene NGS panels into the HCSs diagnostic routine to increase the performance of genetic diagnosis. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 18, 2019 Category: Cancer & Oncology Source Type: research

BRCA mutation screening and patterns among high-risk Lebanese subjects
ConclusionTheBRCA1 c.131G  >  T mutation can be considered a founder mutation in the Lebanese population detected among 5/17 (29%) of individuals diagnosed with a mutation inBRCA1 and among 7/269 families in this cohort. On review of recently published data regarding the landscape ofBRCA mutations in the Middle East and North Africa, each region appears to have a unique spectrum of mutations. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 18, 2019 Category: Cancer & Oncology Source Type: research

Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
ConclusionsThe digital ID tool accurately matches NCCN criteria in one-to-one fashion to identify at-risk individuals for HCS and may be useful in clinical practice, specifically for BRCA-related HBOC and Lynch Syndrome. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 11, 2019 Category: Cancer & Oncology Source Type: research

The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans
AbstractBackgroundAs a large-scale study of Koreans, we evaluated the association between BRCA mutation and the prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients.MethodsWe organized familial pedigrees of 2555 patients with breast cancer who underwent genetic screening forBRCA1/2 in Samsung Medical Center between January 2002 and May 2018. Families with a member that had a history of cancer other than of the breast or ovary were regarded positive for other primary cancer.ResultsThe median age of the population was 40  years (range, 19 to 82 yea...
Source: Hereditary Cancer in Clinical Practice - January 3, 2019 Category: Cancer & Oncology Source Type: research

German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program
ConclusionLess than 50% of IAR regularly participate in a proposed PDAC screening program, although the associated psychological burden is quite low. Physicians should be educated about high risk PDAC groups and screening recommendations. Time and travel efforts must be reduced to encourage more IAR to participate in a recommended screening. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - November 29, 2018 Category: Cancer & Oncology Source Type: research