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ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: Familial Adenomatous Polyposis (FAP)

A new drug (sorafenib) showed promising results among patients with desmoid tumors, which are a type of tumor for which patients with Familial Adenomatous Polyposis (FAP) due to APC gene mutations are at risk. These tumors frequently grow and encompass internal organs and can be hard to remove surgically. The newly published research showed that …

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Permanent link to this article: https://inheritedcancer.net/9nlw2019/

ICARE Newsletter Winter 2019

Advances in Biomarkers to Detect Pancreatic Cancer Early

Early detection of pancreatic cancer is tremendously important, given that most patients who develop the disease are diagnosed at a later stage of the disease when it is usually incurable. Although screening through imaging studies has been proposed (i.e., magnetic resonance cholangiopancreatography (MRCP) and/or endoscopic ultrasound),1 data to support this type of screening as an …

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Permanent link to this article: https://inheritedcancer.net/12nlw2019/

ICARE Newsletter Winter 2019

Community Spotlight

When I was 50 years old I was in pretty good physical shape and I thought I was finally getting six pack abs. I was wrong – those abs were a large football sized tumor, along with a variety of smaller tumors. I was diagnosed with Stage 4 ovarian cancer. I had a hysterectomy and fibroid removal …

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Permanent link to this article: https://inheritedcancer.net/spotlightnlw2019/

ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: Lynch Syndrome

Pertaining to metastatic prostate cancer, recently published data reported 8.1% of men with advanced prostate cancer had evidence of mismatch repair (MMR) mutations in their tumors. These types of mutations are frequently seen in tumors among Lynch syndrome patients. In addition, men with this type of tumor had much poorer survival. Tumors with MMR defects …

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Permanent link to this article: https://inheritedcancer.net/7nlw2019/

ICARE Newsletter Winter 2019

New Genes: GALNT12

A gene called GALNT12 may be yet another inherited colorectal cancer gene,1 as originally suggested by prior studies.2 The current study screened almost 500 colorectal cancer patients and identified 8 rare variants that may be disease causing. The frequency of variants among colorectal cancer patients was much higher than that observed among population-matched healthy controls, …

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Permanent link to this article: https://inheritedcancer.net/13nlw2019/

ICARE Newsletter Winter 2019

Other Advances in Cancer Treatment Among Cancer Patients with Inherited Disease: von Hippel-Lindau (VHL) Disease

Additional exciting advances include the results of a new drug (pazopanib) to treat an inherited cancer condition called von Hippel-Lindau Disease (VHL), in which patients are predisposed to kidney cancers, pancreatic tumors, and hemangioblastomas (i.e., tumors involving the blood vessels). Study results showed that among 31 patients with VHL, overall response rate with the drug …

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Permanent link to this article: https://inheritedcancer.net/8nlw2019/

ICARE Newsletter Winter 2019

Basal Cell Cancers May Be a Risk Factor to Predict Inherited Cancer Predisposition

An interesting area of progress to identify individuals with inherited risks included a study of over 13,000 individuals with six or more basal cell cancers (BCC) evaluated through a claims database. Results indicated ~20% of these individuals had a germline mutation in a DNA repair gene, including BRCA1/2, PALB2, and the Lynch syndrome genes, among …

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Permanent link to this article: https://inheritedcancer.net/10nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Prostate Cancer in BRCA Carriers

Treatment among patients with metastatic castration-resistant prostate cancer: A PARP inhibitor (rucaparib) was granted a breakthrough therapy designation in October 2018 for monotherapy (i.e., sole treatment) among men with metastatic castration-resistant prostate cancer (with a BRCA1/2 mutation) who have received at least one prior androgen receptor-directed treatment and taxane-based chemotherapy. This designation was granted based …

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Permanent link to this article: https://inheritedcancer.net/3nlw2019/

ICARE Newsletter Winter 2019

Ask the Expert

The following question was addressed by Georgia Wiesner, MD, MS, a nationally renowned clinical cancer geneticist, who is an Ingram Professor of Cancer Research, Professor of Medicine in the Division of Genetic Medicine, and the Director of the Clinical and Translational Hereditary Cancer Program for the Vanderbilt-Ingram Cancer Center in Nashville, Tennessee. Q. What are …

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Permanent link to this article: https://inheritedcancer.net/14nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Breast Cancer in BRCA Carriers

Treatment among patients with advanced or metastatic breast cancer: A PARP inhibitor (talazoparib) was approved by the FDA on October 16, 2018 for BRCA carriers with HER2-negative locally advanced or metastatic breast cancer, based on results of the EMBRACA trial outlined in the last ICARE newsletter. Litton JK, et al. N Engl J Med. 2018 …

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Permanent link to this article: https://inheritedcancer.net/1nlw2019/

ICARE Newsletter Winter 2019

Expansion of Lynch Syndrome Tumor Spectrum Which May Have Treatment Implications

Although the Lynch syndrome tumor spectrum is thought to be limited to cancers of the colorectum, endometrium, ovaries, stomach, and a few other cancer types, a recent article suggested there might be a broader tumor spectrum than previously considered. Furthermore, colorectal and endometrial cancers which develop among Lynch syndrome patients frequently are determined on tumor …

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Permanent link to this article: https://inheritedcancer.net/6nlw2019/

ICARE Newsletter Winter 2019

Refining Treatment for Aggressive Prostate Cancer in Men with BRCA2

A recent study reported that a large proportion of men with aggressive prostate cancer have inherited cancer gene mutations. Specifically, among 400 patients with castration-resistant prostate cancer, 16.2% had a germline mutation in a DNA damage repair gene, including 3% with a BRCA2 mutation. Among BRCA2 carriers, survival was 17.4 months, which was much lower …

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Permanent link to this article: https://inheritedcancer.net/5nlw2019/

ICARE Newsletter Winter 2019

New Research and Approvals of PARP Inhibitor Drugs to Treat Ovarian Cancer in BRCA Carriers

First line maintenance treatment among patients newly diagnosed with advanced ovarian cancer: The results of a trial using a PARP inhibitor (olaparib) as maintenance treatment among ovarian cancer patients with advanced disease, a BRCA mutation, and complete or partial response to platinum-based chemotherapy showed that survival at 3 years was 60% among those who got …

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Permanent link to this article: https://inheritedcancer.net/2nlw2019/

ICARE Newsletter Winter 2019

High Proportion of Inherited Genes Detected Among Patients with Advanced Renal Cancer

In a study of advanced renal cell cancer patients, inherited cancer gene mutations were identified in 16%, of which 5.5% had mutations in genes related to renal cell cancer. Among the subgroup with non-clear cell renal cancer, about a fifth had an inherited cancer gene mutation, half of which had a gene mutation that could …

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Permanent link to this article: https://inheritedcancer.net/4nlw2019/

ICARE Newsletter Winter 2019

Testing Interpretation and Variant Reclassification

Results of germline genetic testing generally yield three types of test results: Deleterious (positive), Negative (no mutation detected), and Variant of Uncertain Significance (VUS). As more genes are tested, the chance for a positive result goes up, as does the chance of receiving a VUS result.1 VUS results tell us that it remains uncertain whether …

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Permanent link to this article: https://inheritedcancer.net/15nlw2019/

ICARE Newsletter Winter 2019

New Online Risk Calculator to More Accurately Predict Breast Cancer Risk

Prediction of breast cancer risk is important to identify those at highest and lowest risks, to help guide screening. A previously developed risk algorithm called Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) was recently extended to include truncating mutations in the BRCA genes, PALB2, CHEK2, and ATM. This online risk …

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Permanent link to this article: https://inheritedcancer.net/11nlw2019/