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Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?
ConclusionsSignificantly better overall survival and higher rate of metachronous CRC exist in dMMR subgroup of HNPCC patients comparing with pMMR subgroup. Extended colectomy significantly improved DFS and was thus recommended for dMMR subgroup but not pMMR subgroup of HNPCC patients. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 29, 2021 Category: Cancer & Oncology Source Type: research

A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review
ConclusionThis report indicates a novel germline c.1367delC variant inMLH1, and presents a Korean case of uterine carcinosarcoma associated with Lynch syndrome. Furthermore, the c.1757_1758insC variant inMLH1 was suggested as a founder mutation in Lynch syndrome in Korean women. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - June 3, 2021 Category: Cancer & Oncology Source Type: research

Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - May 17, 2021 Category: Cancer & Oncology Source Type: research

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China
AbstractDNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair function and cause genome instability. Carriers with MMR germline mutations are more likely to have MMR deficiency and microsatellite instability (MSI) than non-carriers and are prone to develop colorectal cancer (CRC) and extracolorectal malignancies, known as Lynch syndrome (LS). MMR gene testing for suspected mutation carriers is a reliable method to identify the mutation types and to discover mutation carriers. Given that carriers of MMR germline mutations have a hi...
Source: Hereditary Cancer in Clinical Practice - May 1, 2021 Category: Cancer & Oncology Source Type: research

CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC
ConclusionsThis study supports and strengthens our previous findings concerning CD36 and an association with disease onset in FAP, AFAP and FAP-MCR affected individuals. Knowledge about the role CD36 in adenoma development may provide greater insight into the development of colorectal cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 29, 2021 Category: Cancer & Oncology Source Type: research

Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice
ConclusionsGuidelines did not change the percentages of tested patients meeting genetic testing criteria but improved documentation of risk management advice by health professionals. Effective approaches to enhance compliance with guidelines are needed to improve risk management and quality of care. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - April 9, 2021 Category: Cancer & Oncology Source Type: research

Massive parallel sequencing in a family with rectal cancer
ConclusionBy massive parallel sequencing in a family suspected of carrying a highly penetrant rectal cancer predisposing genetic variant, we found six genetic missense variants with a potential connection to the rectal cancer in this family. One of them could be a high-risk genetic variant, or one or more of them could be low risk variants. The p.(Glu438Lys) variant in theCENPB gene was found to be of particular interest. The CENPB protein binds DNA and helps form centromeres during mitosis. It is involved in the WNT signaling pathway, which is critical for colorectal cancer development and its role in inherited rectal can...
Source: Hereditary Cancer in Clinical Practice - April 7, 2021 Category: Cancer & Oncology Source Type: research

Should the BCRA1/2-mutations healthy carriers be valid candidates for hematopoietic stem cell donation?
AbstractIt ’s still not clear whether the mutational status of BRCA-mutated healthy hematopoietic stem cells (HSCs) donors could have an impact on the engraftment. Comparing the studies present in literature, we focused on the correlation between BRCA mutations and the development of hematological malignanci es and Fanconi anemia (FA); then, we explored HSCs types, frequencies, and functions in the presence of BRCA mutations, as well as the reconstitution of hematopoiesis after chemotherapy and radiation treatments. The role of BRCA mutations in the FA showed a possible involvement in the onset of the d isease; the mutat...
Source: Hereditary Cancer in Clinical Practice - April 1, 2021 Category: Cancer & Oncology Source Type: research

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition
AbstractAlthoughCDKN2A is well-known as a susceptibility gene for melanoma and pancreatic cancer, germline variants have also been anecdotally associated with a broader range of neoplasms including neural system tumors, head and neck squamous cell carcinomas, breast carcinomas, as well as sarcomas. TheCDKN2A gene encodes for two distinct tumor suppressor proteins, p16INK4A and p14ARF, however, the independent association of germline alterations affecting these two proteins with cancer is under-appreciated. Here, we reviewedCDKN2A germline alterations reported among individuals and families with cancer in the literature, sp...
Source: Hereditary Cancer in Clinical Practice - March 25, 2021 Category: Cancer & Oncology Source Type: research

Clinical implementation of an oncology ‐specific family health history risk assessment tool
Conclusions65  % of patients attending breast cancer clinics in this study are at-risk for hereditary conditions based on current guidelines. Using a patient-facing risk assessment platform enhances the ability to identify these patients systematically and with widespread acceptability and recognized value by p atients. As only a third of at-risk participants received referrals for genetic counseling, further understanding barriers to referral is needed to optimize hereditary risk assessment in oncology practices.Trial RegistrationNIH Clinical Trials registry,NCT04639934. Registered Nov 23, 2020 -- Retrospectively regist...
Source: Hereditary Cancer in Clinical Practice - March 20, 2021 Category: Cancer & Oncology Source Type: research

Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia
ConclusionsReferral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 26, 2021 Category: Cancer & Oncology Source Type: research

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer
ConclusionA high proportion of patients (29%) were identified with Lynch syndrome after they had been diagnosed with an associated cancer, which suggests that there is significant room for improvement in the diagnosis of patients with Lynch syndrome before cancer develops. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 12, 2021 Category: Cancer & Oncology Source Type: research

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC
ConclusionsBRCA1/2 germline mutations from NSCLC exhibited distinct characteristics compared with those from HBOC in Chinese population, including lower carrier frequency than HBOC, higher ratio of nonsense mutations and carriers than HBOC, and novel BRCA1/2 germline mutations never found in HBOC. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 9, 2021 Category: Cancer & Oncology Source Type: research

Risk of hematological malignancies in the families of patients treated for nodular lymphocyte-predominant Hodgkin lymphoma
ConclusionFHM is frequent in NLPHL. This study provided us many important insights for planning future studies in terms of interviewing technique, time, and resource allocation and genetic testing. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 9, 2021 Category: Cancer & Oncology Source Type: research

Clinical challenges in interpreting multiple pathogenic mutations in single patients
ConclusionsOngoing investigation is needed to improve our understanding of inherited susceptibility to disease in general and cancer predisposition syndromes, as this information has the potential to lead to the development of more precise and patient-specific counseling and surveillance strategies. The real-world adoption of new or improved technologies into clinical practice frequently requires medical decision-making in the absence of established understanding of gene-gene interactions. In the meantime, practitioners must be prepared to apply a rationale based on currently available knowledge to clinical decision-making...
Source: Hereditary Cancer in Clinical Practice - February 4, 2021 Category: Cancer & Oncology Source Type: research