The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on August 28th, 2023, which included: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
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A study among CDKN2A carriers assessing the yield and outcomes of 20 years of pancreatic cancer screening found: These results highlight the potential importance of pancreatic cancer screening among CDKN2A carriers. Currently, NCCN guidelines recommend annual pancreatic cancer screening starting at age 40, regardless of family history. Use the link in bio to learn more! …
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Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, PancreaticJanuary 10th, 2023 (Version 2.2023) focused on male BRCA carriers:› Consider annual mammograms (particularly in BRCA2 carriers) starting at age 50 or 10 years before the earliest male breast cancer in the family (whichever comes first)February 13th, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/
Lynch Syndrome Carriers with Advanced Uterine Cancer: Treatment with PembrolizumabWomen with Lynch Syndrome are at high risk for uterine cancer. The type of uterine cancer they develop has the tumorcharacteristic of being ‘MSI-H’. A new study indicated treatment with pembrolizumab (Keytruda) resulted in benefit inpatients with MSI-H advanced uterine cancer. Von Hippel-Lindau Patients: Treatment of …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-inherited-cancer-treatment-updates/
A recent international study found that male BRCA1 and BRCA2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. See the below table for the specific risk levels: Li et al. J Clin Oncol. 2022 Jan. PMID: 35077220. Social media …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-brca1-2-and-male-cancer-risks/
A new study reported on differences in the TP53 mutations between patients who met vs those who did not meet Li-Fraumeni Syndrome (LFS) testing criteria. Several variants were identified multiple times in those who did and did not meet LFS clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282. Other variants were exclusively found in those …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-li-fraumeni-syndrome-and-cancer-risks/
A new article reported that pancreatic cancer risks are morethan 6-fold higher in individuals with an ATM mutation.Pancreatic cancer risks by age were:› 1.1% by age 50› 6.3% by age 70› 9.5% by age 80Hsu, et al. JAMA Oncol. 2021 Sep. PMID: 34529012. Social media post October 1st, 2021. Available at: https://tinyurl.com/post100121.
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-atm-and-pancreatic-cancer/
The below question was addressed by Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro Intestinal Surgical Oncology at Vanderbilt-Ingram Cancer Center. Dr. Idrees’ research has focused on colorectal cancer, liver metastases, and pancreatic cancer …
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Female ATM carriers have approximately a 2-fold risk, on average, for developing breast cancer, which was confirmed through two large studies that reported risks (odds ratio) as 2.10 (95% CI, 1.71–2.57)1 and 1.82 (95% CI, 1.46–2.27). Both studies reported an association with ER+ tumors. Another recent study estimated breast cancer risks to be 13% by …
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A recent small study suggests that immunotherapy may benefit patients with refractory pancreatic or biliary cancer who have inherited a mutation in the homologous recombination deficiency (HRD) genes, BRCA1, BRCA2, and RAD51C.Another new study reported that in BRCA1/2 carriers with pancreatic cancer, maintenance treatment with Olaparib may be of benefit. Findings showed that with Olaparib, …
Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2022-screening-treatment-updates-pancreatic-cancer/
Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic – Released September 7th, 2022› Testing eligibility based on personal history of any type of breast cancer in females was updated from age ≤45 to ≤50 making more females with breast cancer eligible for testing …
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Early-stage, high-risk breast cancer in BRCA carriers: Results of the highly awaited phase 3 OlympiA trial showed promising results for EARLY STAGE (i.e., localized Stage 2-3) high-risk breast cancer patients with a BRCA mutation who were treated with a PARP inhibitor (olaparib) in the adjuvant setting (i.e., AFTER surgery).1 Early-stage breast cancer in this trial …
Permanent link to this article: https://inheritedcancer.net/newsletter-fall-2021-inherited-cancer-treatment-updates/
In May 2021, a clinical practice resource was released by the American College of Medical Genetics and Genomics (ACMG) from a global team of cancer genetics specialists (see figure) to help guide the care of PALB2 carriers.1 PALB2 is considered the third most important breast cancer risk gene, after BRCA1 and BRCA2, with PALB2 carriers …
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Breast, Ovarian, and Pancreatic Guidelines V.1.2022: Released August 11th, 2021 Colorectal Cancer Guidelines V.1.2021: Released May 11th, 2021 Check out the full NCCN guidelines by creating a FREE account at www.nccn.org
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The National Comprehensive Cancer Network (NCCN) just released updated breast, ovarian, and pancreatic cancer guidelines which included updated breast cancer screening recommendations for male BRCA carriers (particularly male BRCA2 carriers). It is now recommended that male BRCA carriers consider annual mammograms starting at age 50 or 10 years before the earliest male breast cancer in …
Permanent link to this article: https://inheritedcancer.net/post12423/
In every ICARE newsletter we give our participants the opportunity to have a question addressed by an expert in the field. In the latest edition, Dr. Kamran Idrees, Chief of the Division of Surgical Oncology & Endocrine Surgery, Associate Professor of Surgery, Ingram Associate Professor of Cancer Research, and Director of Pancreatic and Gastro-Intestinal Surgical …
Permanent link to this article: https://inheritedcancer.net/post111122/
On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, genetic testing eligibility based on age at breast cancer diagnosis in females was updated from ≤ 45 to ≤ 50 making more females with breast cancer eligible for testing regardless of family history …
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On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In these new guidelines, the age to start breast MRI screening in female ATM and CHEK2 carriers was updated from age 40 to 30-35 making more females eligible for screening at an earlier age.Check out the new …
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On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines. In this new version, a table was added at the end of the guidelines to summarize inherited cancer content across 𝗮𝗹𝗹 NCCN guidelines, including live links to the guidelines and sections referenced (see page 54 on the …
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On September 7th, 2022, the National Comprehensive Cancer Network (NCCN) released new breast, ovarian, and pancreatic cancer guidelines.Check out the new guidelines at:https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
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A new study reports that maintenance treatment with Olaparib may benefit BRCA1/2 carriers with pancreatic cancer. These findings demonstrated:long-term survival was more commontime to subsequent therapy was prolongedRead the full article at the link in our bio for more info! 🔗Reference: Kindler et al. J Clin Oncol. 2022; JCO2101604. PMID: 35834777.
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A recent study found that earlier diagnosis improved survival in people at high risk of pancreatic cancer.High risk was defined based on:family history and/orinherited gene mutation (BRCA1, BRCA2, CDKN2A, Lynch Syndrome genes, PALB2, ATM, and STK11)Read the article at the link in our bio! 🔗Reference: Dbouk, et al. J Clin Oncol. 2022 Jun 15:JCO2200298. doi: …
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A recent study found that pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with multiple cancers. Specifically, moderate-to-high risks for pancreatic, prostate, gastric, and invasive ductal breast cancers, and low-to-moderate risks for ductal carcinoma in situ, male breast cancer, ovarian cancer, colorectal cancer, and melanoma.This provides more data to guide risks and …
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A recent small study suggests that immunotherapy may be beneficial for patients with refractory pancreatic or biliary cancer who have inherited homologous recombination deficiency (HRD) genes, BRCA1, BRCA2, and RAD51C.Check out the full article to learn more at 👇https://jamanetwork.com/journals/jamaoncology/article-abstract/2791557Reference: Terrero et al. JAMA Oncol. 2022 Apr:e220611. doi:10.1001/jamaoncol.2022.0611. PMID: 35446342.
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A new study evaluated 23 hereditary cancer genes and found 19 new gene associations, including 7 new associations with cancer and 12 new associations with non-neoplastic diseases. Specifically, the below genes were found to have an increased risk of disease:APC: benign liver/bile duct tumors, gastritis, and duodenitisATM: stomach cancer and pancreatic cancerBRCA1/2: ovarian cystsCHEK2: leukemia …
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A new study found that male BRCA1/2 carriers have a higher risk for breast, pancreatic, and stomach cancer. Additionally, male BRCA2 carriers were found to have higher risks for prostate cancer. Read the full Journal of Clinical Oncology article to learn more!https://ascopubs.org/doi/full/10.1200/JCO.21.02112Reference: Li et al. J Clin Oncol. 2022 Jan 25;JCO2102112. PMID: 35077220.
Permanent link to this article: https://inheritedcancer.net/post12822/
For more information, read the full article at: https://jamanetwork.com/journals/jamaoncology/article-abstract/2783767 Reference: Hsu, et al. JAMA Oncol. 2021 Sep 16:e213701. PMID: 34529012.
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The National Comprehensive Cancer Network (NCCN) released new guidelines on August 11th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
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For more information, view the article at the following link below: https://ascopubs.org/doi/abs/10.1200/JCO.21.00003 You may also read the ASCO post article at: https://ascopost.com/news/may-2021/maintenance-rucaparib-in-patients-with-platinum-sensitive-pancreatic-cancer-and-germline-or-somatic-brca1-brca2-or-palb2-variants/?utm_source=TAP%2DEN%2D051221%2DTrending%5FLymphoma&utm_medium=email&utm_term=49cf1c97d48c2cf8231827e3bcb15769
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Below you may watch a featured video from the June 2021 Genetics Case Conference, which focused on PALB2 with guest experts Marc Tischkowitz, MD, PhD from the University of Cambridge in Cambridge, England and Steven Narod, MD, FRCPC, FRSC from the Women’s College Research Institute in Toronto, Canada.
Permanent link to this article: https://inheritedcancer.net/video61021/
𝘐𝘯 𝘳𝘦𝘤𝘰𝘨𝘯𝘪𝘵𝘪𝘰𝘯 𝘰𝘧 𝘴𝘬𝘪𝘯 𝘤𝘢𝘯𝘤𝘦𝘳 𝘢𝘸𝘢𝘳𝘦𝘯𝘦𝘴𝘴 𝘮𝘰𝘯𝘵𝘩, we present cancer risks and management for 𝗖𝗗𝗞𝗡𝟮𝗔 per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Version 2.2021 𝗠𝗲𝗻 & 𝗪𝗼𝗺𝗲𝗻:Melanoma risk: Elevated at 28-67% – Recommend annual full-body skin exam, regular self-examinations, and routine sun protective behaviors. Pancreatic cancer risk: >15% – Consider MRI/MRCP and/or endoscopic …
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Over the last several months, the American Society of Clinical Oncology published a number of guidelines related to the use of PARP inhibitors among those with BRCA-associated cancers, including guidelines focused on ovarian cancer,1 metastatic pancreatic cancer,2 and breast cancer.3 Additionally, costs of drugs also have great potential to influence policy, highlighting the importance of …
Permanent link to this article: https://inheritedcancer.net/7nlw2021/
For further information, read the article available at: https://jnccn.org/…/journals/jnccn/18/11/article-p1528.xml
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Below you may watch a featured video from the December 2020 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines. Check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf
Permanent link to this article: https://inheritedcancer.net/video121020/
The National Comprehensive Cancer Network (NCCN) released new guidelines on November 20th for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/…/physician_gls/pdf/genetics_bop.pdf
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For additional details, refer to the article available at: https://ascopubs.org/doi/full/10.1200/JCO.20.01364
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Gene: 𝙏𝙋𝟱𝟯 Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …
Permanent link to this article: https://inheritedcancer.net/post101620/
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Gene: 𝘼𝙏𝙈 Cancer Risks and Management (per NCCN Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2021) 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 30% – Recommend annual mammogram starting at age 40 and consider annual breast MRIs starting at age 40. Ovarian cancer risk: Possibly increased, not well established – Manage based on family history. …
Permanent link to this article: https://inheritedcancer.net/post100220/
The National Comprehensive Cancer Network (NCCN) released new guidelines on September 8th, 2020, which included updates to genetic testing criteria by cancer type as follows: Breast Cancer: Broadened to include relatives with ALL grades of prostate cancer (not just high-grade) Now having multiple breast cancer diagnoses is NOT dependent on whether the diagnoses were …
Permanent link to this article: https://inheritedcancer.net/post91520/
There continue to be ongoing advances in treatment studies among those with inherited cancer gene mutations, which are rapidly being followed by FDA approval for specific cancer treatments. Select studies and advances are summarized below: BRCA1/2 Carriers: Breast Cancer: For those with later stage or metastatic breast cancer, the FDA currently has approvals for the use …
Permanent link to this article: https://inheritedcancer.net/2nls2020/
Individuals with a family history of pancreatic cancer have a higher risk to develop pancreatic cancer. A recent study reported the following pancreatic cancer risks compared to the general population, based on relationship to an individual with pancreatic cancer: First-degree relative (e.g., parent, sibling, child) – 1.76 fold higher Second-degree relative (e.g., aunts, uncles, grandparents) …
Permanent link to this article: https://inheritedcancer.net/post70720/
In BRCA1/2 or PALB2 carriers with stage 3 or 4 pancreatic cancer, the combination of cisplatin + gemtricitabine with veliparib (a PARP inhibitor), did NOT seem to provide additional benefit over cisplatin + gemtricitabine alone. Through this phase 2 randomized control trial, response rates in both treatment arms were high with similar overall survival rates. …
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A recent study found that patients with metastatic pancreatic cancer who had mutations in the DNA repair genes (either inherited or just in the tumor) had better clinical outcomes after platinum-based chemotherapy compared to patients without these mutations. Check out the link to full article: https://clincancerres.aacrjournals.org/content/early/2020/05/20/1078-0432.CCR-20-0418
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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 …
Permanent link to this article: https://inheritedcancer.net/2nlw2020/
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 …
Permanent link to this article: https://inheritedcancer.net/6nlw2020/
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 …
Permanent link to this article: https://inheritedcancer.net/1nlw2020/
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 …
Permanent link to this article: https://inheritedcancer.net/4nlw2020/
The National Comprehensive Cancer Network (NCCN) and the International Cancer of the Pancreas Screening (CAPS) Consortium recently updated pancreatic cancer screening recommendations. However, there are some differences between these recommendations. Specifically, screening with annual MRI/magnetic retrograde cholangiopancreatography (MRCP) and/or endoscopic ultrasound (EUS) is recommended as follows for NCCN versus CAPS: STK11 regardless of family history: …
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The International Cancer of the Pancreas Screening (CAPS) Consortium recently published updated pancreatic cancer screening recommendations. The recommendations include: Screening with MRI/magnetic retrograde cholangiopancreaography (MRCP) and/or endoscopic ultrasound (EUS) The screening was recommended for the following individuals: CDKN2A and STK11 mutation carriers starting at age 40 BRCA1/2, ATM, PALB2, MLH1, and MSH2 mutation carriers (if …
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About 10% of pancreatic cancers are thought to be the result of an inherited mutation. All of the genes that predispose patients to pancreatic cancers have not yet been discovered. Recently, a new gene known as RABL3 was linked to pancreatic cancer. This gene may increase the risk of hereditary pancreatic cancer. Additional studies are …
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The FDA approved the use of olaparib, a PARP inhibitor, as first-line maintenance treatment in BRCA1/2 carriers with metastatic, platinum-sensitive, pancreatic cancer. Platinum-sensitive cancer is a cancer that responds to treatment with drugs that contain the metal platinum, such as carboplatin or cisplatin. Olaparib showed to nearly double the progression-free survival in BRCA1/2 carriers with …
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A new published study of 524 families with PALB2 mutations, including our very own ICARE participants, from around the world showed increased risks of female breast, ovarian, pancreatic, and male breast cancer. The level of risk for female breast cancer is enough to recommend cancer risk management. Cancer risk management includes screening or risk-reducing surgery. …
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Below you may watch a featured video from the December 2019 Genetics Case Conference, which outlined updates to the National Comprehensive Cancer Network (NCCN) guidelines.
Permanent link to this article: https://inheritedcancer.net/video121219/
We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …
Permanent link to this article: https://inheritedcancer.net/post12419/
Results from a clinical trial of individuals with a BRCA1/2 mutation and pancreatic cancer showed that patients who received a PARP inhibitor (olaparib) for maintenance treatment had almost half the risk of their disease progressing when compared to receiving a placebo.1 In fact, after 2 years, 22.1% of patients who received olaparib had no disease …
Permanent link to this article: https://inheritedcancer.net/3nls2019/
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 …
Permanent link to this article: https://inheritedcancer.net/12nlw2019/
A number of recent studies have suggested that a substantial number of individuals with pancreatic cancer have a mutation in an inherited cancer gene. In a study of over 300 patients with pancreatic cancer (and with one or two family members with pancreatic cancer), 12% were found to have a mutation in 1 of 11 …
Permanent link to this article: https://inheritedcancer.net/4nls2018/
Over the past year, multiple studies have refined risks and types of cancer among individuals with Lynch syndrome. Through a Scandinavian study, risks for 13 types of cancer (with colorectal cancers being excluded), were reported to be elevated with differences related to gender, age, and the gene in which mutation was present. Incidence rates of …
Permanent link to this article: https://inheritedcancer.net/5nls2018/
In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …
Permanent link to this article: https://inheritedcancer.net/9nlw2018/
Although pancreatic cancer is one of the cancer types seen among individuals with mutations in inherited cancer genes (including BRCA2 and BRCA1), the proportion of individuals with pancreatic cancer who have an inherited cause has remained uncertain. To further clarify the role of BRCA1 and BRCA2 (BRCA), over 300 patients with pancreatic cancer were tested …
Permanent link to this article: https://inheritedcancer.net/7nlw2016/
Some evidence suggests that individuals with BRCA mutations who develop pancreatic cancer may benefit from specific chemotherapy regimens. In a recent review of this topic, Kim et al reported on a study of 5 patients with BRCA mutations (4 BRCA2 and 1 BRCA1) who were treated with a platinum-based chemotherapy regimen.1 Of these patients, 3 …
Permanent link to this article: https://inheritedcancer.net/1nlw2013/
