A significant number of multiple myeloma patients may have an
inherited but previously unrecognized risk of developing the
disease, a new study led by Roswell Park Chief of Clinical Genomics
Kenan Onel, MD, PhD, reveals.
- • Pathogenic germline variants in BRCA1
and BRCA2 linked to early-onset disease
- About 10% of multiple myeloma patients
carry variant in hereditary cancer gene
- Study and Spotlight commentary appear
in Blood Cancer Discovery
BUFFALO,
N.Y., Sept. 17, 2024 /PRNewswire-PRWeb/ -- A
significant number of multiple myeloma patients may have an
inherited but previously unrecognized risk of developing the
disease — a type of blood cancer that affects plasma cells. That's
the finding of a genetic study that is the first to definitively
associate multiple myeloma risk with inherited differences in the
BRCA1 and BRCA2 genes. The study also suggests that genetic testing
for young or newly diagnosed patients could help clinicians
identify the most promising treatment option for those
patients.
"The study highlights yet again how
important genetics is to both the diagnosis and treatment of
cancer."
Led by Kenan Onel, MD, PhD, Chief
of Clinical Genomics and Director of the Center for Precision
Oncology and Cancer Prevention at Roswell Park Comprehensive Cancer
Center, the study was published Sept.
16 by Blood Cancer Discovery, a journal of the American
Association for Cancer Research (AACR).
BRCA genes are responsible for repairing DNA and preventing
tumors from forming. Mutations in those genes can allow cells to
grow out of control, raising the risk of breast, ovarian, prostate
and pancreatic cancers, among others. The study found that,
compared with healthy subjects, multiple myeloma patients were more
likely to have pathogenic germline variants (PGVs) — inherited
changes that can increase cancer risk — in the BRCA1 and BRCA2
genes.
While multiple myeloma affects mostly older adults — 95% are
over 50 — Dr. Onel and his colleagues discovered that patients
whose BRCA genes contained PGVs, which dramatically increase cancer
risk, were more likely to be diagnosed at a younger age and to have
a personal or family history of cancer.
The team also found that patients with PGVs were more likely to
benefit from therapy that included the alkylating chemotherapy
melphalan (brand name Alkeran) along with autologous stem cell
transplant, the only curative multiple myeloma treatment. The study
authors conclude that genetic testing should be considered for
young or newly diagnosed patients who have a personal or family
cancer history, to guide treatment decisions and gauge family
members' cancer risk.
"Increasingly we're seeing that cancer predisposition matters
when it comes to cancer treatment," says Dr. Onel. "This expands
the therapeutic options we have for these patients."
He notes that multiple myeloma is a rare disease, so he and his
colleagues were fortunate to have access to the two largest
multiple myeloma datasets in the world. They provided data for a
total of 1,681 patients — 895 in the CoMMpass℠ Study of the
Multiple Myeloma Research Foundation (MMRF) and replication data
from another 786 at Tisch Cancer Institute at Mount Sinai in New
York City that were used to verify findings from the
CoMMpass data. The data included information about patients'
tumors, treatments and post-treatment outcomes.
"The study highlights yet again how important genetics is to
both the diagnosis and treatment of cancer," says Dr. Onel.
Also key to this effort were first author Santiago Thibaud, MD, and co-senior author
Samir Parekh, MD, from the Icahn
School of Medicine at Mount Sinai, New
York City, and collaborators from the Mount Sinai's Tisch Cancer Institute. Blood
Cancer Discovery also published today an In the Spotlight
commentary from Brian Walker, PhD,
of the Indiana University School of
Medicine.
The first of its kind in the nation, Roswell Park's new
Department of Clinical Genomics focuses on diagnosing and caring
for patients whose genetics or family history increase their risk
of cancer.
From the world's first chemotherapy research to the PSA prostate
cancer biomarker, Roswell Park Comprehensive Cancer Center
generates innovations that shape how cancer is detected, treated
and prevented worldwide. Driven to eliminate cancer's grip on
humanity, the Roswell Park team of 4,000 makes compassionate,
patient-centered cancer care and services accessible across
New York State and beyond. Founded
in 1898, Roswell Park was among the first three cancer centers
nationwide to become a National Cancer Institute-designated
comprehensive cancer center and is the only one to hold this
designation in Upstate New York. To learn more about Roswell Park
Comprehensive Cancer Center and the Roswell Park Care Network,
visit http://www.roswellpark.org, call 1-800-ROSWELL
(1-800-767-9355) or email ASKRoswell@RoswellPark.org.
Media Contact
Annie Deck-Miller, Roswell Park
Comprehensive Cancer Center, 716-845-8593,
annie.deck-miller@roswellpark.org, roswellpark.org
View original
content:https://www.prweb.com/releases/inherited-changes-in-brca-genes-linked-to-increased-risk-of-multiple-myeloma-302250583.html
SOURCE Roswell Park Comprehensive Cancer Cetner