Yaklaşık 7-8 ay önce genetik test içün gitmiştim... Sonuç çıkmış.. PALB2 ve CHEK2 genlerimde mutasyon varmış. Annem ve babamı çağırdılar, kardeşim de kan verdi.

Öğrenmek hoşuma gitmese de çocuklarım için mecburdum... Sülaleme mıçayım, genlerime tüküreyim..

Diyeceklerim bu kadar

Check out my platform presentation USCAP on gastrointestinal manifestations of germline CHEK2 alterations! #USCAP2021 #GIpath

First author JCO pub. We identify that germline mutations in ATM,BRCA2,CDH1,CHEK2 & PALB2 are associated with increased risk of invasive lobular carcinoma of breast, whereas BRCA1 is not.
Mayo Clinic Comprehensive Cancer Center Mayo Clinic Hematology-Oncology Fellowship BasserBRCA ASCO Publications OncoAlert

ascopubs.org/doi/abs/10.120…

What can #CHEK2 teach us about moderate risk? The mutation matters. Mark Robson City of Hope #cohgenomics #gcchat #CancerGenetics

#TumorBoardTuesday Mike Pishvaian Shilpa Gupta Andrey Soares Martín Angel Misha Beltran Edwin Posadas, MD AttardLab Chris Parker Dimitrios Giannis MD, MSc Eleni Efstathiou Matt Sydes Alicia Morgans, MD, MPH Josh Lang Jason Brown Prateek Mendiratta JAGarciaMD Charbel Hobeika, MD Karine Tawagi MD Gianluca Giannarini Simon C Tom Varghese Jr. MD, MS, MBA, FACS, MAMSE 🇺🇸 Johnathan Ebben MD, PhD @gulleyj1 Uromigos Colin Pritchard Petros Grivas Ian Davis Arun Azad Andrea Miyahira Benjamin L Maughan Dan George Alan H Bryce Andy Hahn 𝐂𝐡𝐚𝐧𝐝𝐥𝐞𝐫 𝐏𝐚𝐫𝐤 𝐌𝐃 𝐅𝐀𝐂𝐏 Nazli Dizman Abhenil Mittal Cristiane D Bergerot Atish Choudhury, MD PhD Minas Economides, MD Jonathan Rosenberg MD Abhishek Tripathi Brian Rini, MD Yüksel Ürün Hans Hammers 4/18 #TumorBoardTuesday Amanda Nizam, MD Vinay Mathew Thomas Alejandro Sanchez, MD Joshua Meeks
#ProstateCancer
👩🏽‍🏫Mini tweetorial 2👨🏻‍🏫

📌mCRPC patients with DNA repair alterations

📍Majority were HRR mutations
📍BRCA2 44%
📍ATM 13%
📍CHEK2 12%
📍BRCA1 7%
📚Joaquin Mateo ncbi.nlm.nih.gov/entrez/eutils/…

23% of all #patients w/ #testicularcancer #germlinetesting had pathogenic mutations, 19% in DNA-damage repair genes (e.g. ATM, CHEK2). #DrChethanRamamurthy UT Health San Antonio Guru P. Sonpavde, MD Dana-Farber Invitae Urologic Oncology
#access #genetictesting #clinicaltrials

authors.elsevier.com/c/1eOZ23r93nRQ…

⚡️Can you give PARP inhibitor alone (WITHOUT ADT) for BRCA1, BRCA2, or CHEK2 metastatic hormone sensitive prostate cancer patients?

ORR 60% for BRCA2 patients. Small study but very intriguing by #MarkMarkowski and #EmmanuelAntonarkis

ASCO #GU23 #PosterSession
OncoAlert

Breast cancer predisposition genes

BARD1, CHEK2 = Breast ca alone ('BARe CHEst')
CDH1 = Chest & DH1gestive (i.e. gastric)
ptEN = ENdometrial
STK11 = STinKy cancer (colorectal)
PALB2 = PAncreatic & Breast
ATm = pancreATic & breAsT
BRca & BRip1 = BReast ca

#GeneChat #oncology

We recently published a review on the functional analysis of genetic variants in the moderate cancer risk gene CHEk2. Read about the challenges, particularly how to link functional outcomes with cancer risk cell.com/trends/cancer/…

#Chek2 out our latest work on VHL Disease with a very severe course published today in Acta Neurochirurgica 🧠📝

link.springer.com/article/10.100…

Our paper describing a quantitative approach for the functional analysis of genetic variants in the tumor suppressor CHEK2 is online. We identified new CHEK2 variants associated with increased cancer risk. Great work by Rick Boonen and collaborators!
cancerres.aacrjournals.org/content/early/…

We have a KWF-funded postdoc position available to determine the functional impact and associated cancer risk of all missense variants in CHEK2 using newly developed high-throughput assays.

More info & application form:
lumc.nl/en/over-het-lu…

See also:
vanattikumlab.org

Palb2,ATM and Chek2 genetic testing with MRI screening in high risk family history breast cancer. Not new, but value of screening identified.

For genetic testing like CHEK2, genetic testing result do not replace family history. Family history complements decision on risk reducing mastectomy. ⁦ASBrS⁩ #ASBrS22

TRITON2 study: Rucaparib in patients with mCRPC and deleterious non-BRCA DDR gene alteration!
⭕️Type of DDR alteration does matter!
⭕️Comparing with BRCA ➡️response to PARPi is limited in ATM, CDK12, or CHEK2 alteration!
Wassim Abida @sloan_kettering Simon C OncoAlert

Interestingly, women carrying germline pathogenic variants in ATM, BRCA, BRCA2, CHEK2, and PALB2 have an increased risk of #breastcancer and may benefit from improved surveillance and risk reduction strategies.
ascopubs.org/doi/full/10.12…

Updated results from TRITON2: rucaparib for mCRPC pts with DRD

n=190

BRCA pts: 43.9% radiographic response (60% response >24 weeks), 52.0% PSA response

No radiographic response for CHEK2 or CDK12, 9.5% for ATM

UroToday.com #ESMO2019 #ESMO19

#CGAIGC21 Excellent summary of hereditary genes associated with pancreatic cancer by Beth Dudley, MS, MPH, CGC. I was especially struck by the high proportion of CHEK2 in the 'other' genes. CHEK2 is such an unpredictable gene to me and I bet we've all seen it in panc ca. #GCchat

Olaparib expanded: Phase II study: olaparib monotherapy resulted in ORR > 80% with gPALB2 and = 50% in sBRCA1/2 in mBC pts with some having durable RR, majority were ER+, responses post CDK 4/6i were observed! No responses with ATM and CHEK2! #bcsm #ASCO2020 OncoAlert

👉🏻Still more questions than answers in the role of CHEK2 in #CRC predisposition
➡️Until more answers comes…the recommendation is CRC screening as for high-risk familial CRC National Comprehensive Cancer Network (NCCN)
👏🏻👏🏻Nice presentation by Priyanka Kanth,MD,MS CGA-IGC #CGAIGC22