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ICARE Newsletter Winter 2020

Community Spotlight

I was diagnosed with breast cancer in December 2018 and was found to be PALB2+. The PALB2 gene had not been tested for when my older sister was diagnosed with breast cancer and had genetic testing done four years earlier. This was new! My cancer was very similar to my sister’s, but being PALB2+ changed …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2020/

ICARE Newsletter Winter 2020

Treatment Advances Among Those with Inherited Prostate Cancer Predisposition

A recent study reported a high complete response rate among men with a BRCA1/2 mutation with metastatic, castration-resistant prostate cancer who were treated with niraparib (a PARP inhibitor) of 63% compared to 17% in the non-BRCA1/2 group.1 Based on this data, the Federal Drug Administration (FDA) granted breakthrough therapy designation to niraparib on October 3, …

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Permanent link to this article: https://inheritedcancer.net/3nlw2020/

ICARE Newsletter Winter 2020

New Study Based on ICARE Participants with ATM & CHEK2 Mutations

We are excited to tell you about our recently published results based solely on data from ICARE participants with ATM and CHEK2 mutations. Our findings suggest most female family members of ATM and CHEK2 mutation carriers do not qualify for breast MRI screening based on family cancer history alone. This emphasizes the need to share …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-winter-2020new-study-based-on-icare-participants-with-atm-chek2-mutations/

ICARE Newsletter Winter 2020

Treatment Advances Among Those with Inherited Pancreatic Cancer Predisposition

Results from a recent study showed olaparib (a PARP inhibitor) nearly doubled the progression-free survival in BRCA1/2 carriers with metastatic pancreatic cancer.1 Based on this data, the FDA approved the use of olaparib as a first-line maintenance treatment in BRCA1/2 carriers with metastatic, platinum-sensitive pancreatic cancer. This represents another treatment advance in pancreatic cancer and …

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Permanent link to this article: https://inheritedcancer.net/2nlw2020/

ICARE Newsletter Winter 2020

PALB2 Mutations & Cancer Risk

A newly published study of 524 families with pathogenic PALB2 mutations from around the world, including almost 50 ICARE participants, represents the largest, most comprehensive effort to evaluate cancer risks.1 Results showed increased risks for female breast cancer (53%), ovarian cancer (5%), pancreatic cancer (2-3%), and male breast cancer (1%). Findings did not suggest higher …

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Permanent link to this article: https://inheritedcancer.net/6nlw2020/

ICARE Newsletter Winter 2020

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic

There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the ‘genetic testing process’ Following scenarios now …

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Permanent link to this article: https://inheritedcancer.net/1nlw2020/

ICARE Newsletter Winter 2020

Updated Pancreatic Cancer Screening Guidelines through CAPS Consortium

The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated recommendations about pancreatic cancer screening through MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or an endoscopic ultrasound (EUS).1 Specifically, these guidelines now recommend that individuals with a CDKN2A or STK11 mutation begin screening at age 40. Screening for individuals with a BRCA1/2, ATM, PALB2, MLH1, or …

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Permanent link to this article: https://inheritedcancer.net/4nlw2020/

ICARE Newsletter Winter 2020

Ask the Expert

Through each newsletter, we give our participants an opportunity to have their questions answered by experts. If you have a question you would like addressed, please email the study team at ICARE@InheritedCancer.net for consideration in future newsletters. The following question was addressed by Ben Ho Park, MD, PhD, who is the Donna S. Hall Chair …

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Permanent link to this article: https://inheritedcancer.net/8nlw2020/

ICARE Newsletter Winter 2020

Lynch Syndrome Cancer Risks Across Genes

A worldwide study reporting on cancer risks among individuals with mutations in Lynch syndrome genes showed that there are substantial differences in cancer risks across the various genes.1 Specifically, the risk for colorectal cancer in those with  MLH1, MSH2, and MSH6 mutations was substantially higher than what was seen for those with PMS2 mutations. Additionally, …

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Permanent link to this article: https://inheritedcancer.net/5nlw2020/