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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 24, 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
ConclusionsThis systematic literature review and meta-analysis suggests that women with NF1  <   50 y.o. have a five-fold increased risk of BC, present with more advanced disease, and may have an increased BC related mortality. Increased awareness and implementation of recent National Comprehensive Cancer Network early BC screening guidelines for this high-risk patient population is essent ial. Additional evaluation on the influence ofNF1 gene mutations identified in patients undergoing hereditary cancer genetic testing on breast cancer risk in individuals without clinical evidence of NF1 is needed. (Source: Heredi...
Source: Hereditary Cancer in Clinical Practice - March 24, 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 13, 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 11, 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
ConclusionsWe confirmed that BRCA mutation was associated with having multiple risk factors and an increased prevalence of non-breast and ovary cancers in first- and second-degree relatives of high-risk breast cancer patients. Due to the possibility of inherited cancer risk, genetic counseling with options for risk assessment and management should be provided to both patients and families of BRCA mutation carriers. (Source: Hereditary Cancer in Clinical Practice)
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

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families
ConclusionLynch syndrome confers an increased risk for multiple cancers other than colorectal and endometrial cancer. The proportions of other cancers vary between different MMR genes, with highest frequency inMSH2-carriers. Gender and age also affect the tumour spectrum, demonstrating the importance of additional environmental and constitutional parameters in determining the predisposition for different cancer types. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - October 23, 2018 Category: Cancer & Oncology Source Type: research

Polyglobulia in patients with hemangioblastomas is related to tumor size but not to serum erythropoietin
ConclusionsWe therefore conclude that in contrast to previous case reports and interpretations, our data show no correlation between polyglobulia and EPO levels or associated cysts in patients with hemangioblastomas. In fact, it is the size of the solid tumor that correlates with polyglobulia.The study was retrospectively registered in the German Clinical Trial Registry on 10 July 2014; Trial registration:DRKS00006310. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - September 11, 2018 Category: Cancer & Oncology Source Type: research