Hereditary Cancer in Clinical Practice 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Neoadjuvant therapy of BRCA1-driven ovarian cancer by combination of cisplatin, mitomycin C and doxorubicin
ConclusionsThe attempt to intensify NACT by administering combination of 3 drugs did not result in high rate of complete pathologic responses. However, there was a trend towards higher efficacy of the MAP regimen versus conventional TCbP scheme with regard to CRS and clinical outcomes. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 3, 2021 Category: Cancer & Oncology Source Type: research
BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update
ConclusionsThe frequency of 13 causativeBRCA1 andBRCA2 founder mutations in West Belarus was higher than in other Slavic countries. Testing ofBRCA1 (c.5266dupC, c.4035delA, c.3756_3759delGTCT, c.68_69delAG, c.1687C > T as well as c.181 T > G) andBRCA2 (c.658_659delGT) mutations should be considered an inexpensive and sensitive test panel for this population. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 21, 2021 Category: Cancer & Oncology Source Type: research
A rare large duplication of MLH1 identified in Lynch syndrome
ConclusionsWe identified altogether three pathogenic/likely pathogenic variants in the MMR genes in three of the 19 sequenced families. TheMLH1 variants, a duplication of exons 4 to 13 and a frameshift variant, were novel, based on the InSiGHT and ClinVar databases; theMSH2 splice site variant was reported by a single submitter in ClinVar. As a variant class, duplications have rarely been reported in the MMR gene literature, particularly those covering several exons. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 19, 2021 Category: Cancer & Oncology Source Type: research
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences
ConclusionsThe uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 19, 2021 Category: Cancer & Oncology Source Type: research
Novel PHOX2B germline mutation in childhood medulloblastoma: a case report
ConclusionsThis case revealed a de novoPHOX2B germline mutation as a potential cause of medulloblastoma in a child and suggests familial germline variant screening is useful when an affected family is considering having a second child. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 19, 2021 Category: Cancer & Oncology Source Type: research
A novel frequent BRCA1 recurrent variant c.5117G & gt; A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review
ConclusionsBy combining three studies by our group of the same cohort in Latvia, frequency of theBRCA1/2 PV for unselected breast and ovarian cancer cases is 241/5060 (4.8%) and 162/1067 (15.2%) respectively. The frequency of three “historical” founder PV is up to 87.0% (369/424). Other non-founder PV contribute to at least 13.0% (55/424) and this proportion probably will rise by increasing numbers of theBRCA1/2 sequencing. In relative numbers, c.5117G > A is currently the third most frequent PV of theBRCA1 in population of Latvia, overcoming previously known third most common founder variant c.181 T >...
Source: Hereditary Cancer in Clinical Practice - January 19, 2021 Category: Cancer & Oncology Source Type: research
Advanced adenomas may be a red flag for hereditary cancer syndromes
Conclusions5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation inMLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary cancer syndromes. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 12, 2021 Category: Cancer & Oncology Source Type: research
Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review
ConclusionOur case reported a CMMRD patient with heterogeneous MMR results who showed complicated response to ICIs, highlighting the importance of accurate diagnosis using targeted sequencing with multiple specimens to reveal the possible mechanism of response to ICI in patients with CMMRD. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 9, 2021 Category: Cancer & Oncology Source Type: research
Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population
ConclusionWe found no difference in the prevalence of recurrentPALB2 mutations between cases and healthy controls. The mutations inPALB2 gene seem not to play a major role in bladder and kidney cancer development in Polish patients. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 8, 2021 Category: Cancer & Oncology Source Type: research
Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report
ConclusionsFurther studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 7, 2021 Category: Cancer & Oncology Source Type: research
Correction to: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
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 - January 7, 2021 Category: Cancer & Oncology Source Type: research
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine
ConclusionWe provide point-by-point discussion, reviewing multiple laboratory mistakes and clinical misinterpretations occurred with this patient. This case report exemplifies the need to involve rigorous clinical expertise in the daily practice of medical laboratory facilities. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 6, 2021 Category: Cancer & Oncology Source Type: research
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome
ConclusionsLFS has been associated with Choroid plexus carcinoma (CPC), but rarely with CPP as in our patient. That suggests that it may be advisable to consider the possibility of analyzing TP53 mutation, not only in all patients with CPC, but also in some patients with CPP, especially when histological or clinical evidences point out to perform this study. The dissimilar presentation of LFS among our patient ’s father, not having so far any neoplasia diagnosed, while her daughter presented precociously with two simultaneous different tumors, could be related to possible effects of modifier genes on the underlying mutan...
Source: Hereditary Cancer in Clinical Practice - January 6, 2021 Category: Cancer & Oncology Source Type: research
Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review
ConclusionsThere have been only 6 cases of metaplastic breast carcinoma with germlineBRCA1 mutations including our case. Patients withBRCA1 mutations may develop basal-like subtypes or M type of triple-negative breast cancer besides metaplastic breast cancers. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 6, 2021 Category: Cancer & Oncology Source Type: research
Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
ConclusionsOur data suggest that theRECQL gene plays a negligible role in breast cancer predisposition in Pakistan. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 20, 2020 Category: Cancer & Oncology Source Type: research
