Breast cancer classified into 12 unique biological groups
Newly linked genomic and pathologic features provide a singular
biological framework

Date:
December 8, 2021
Source:
UNC Lineberger Comprehensive Cancer Center
Summary:
Researchers have demonstrated a major step forward in melding two
key methods for studying breast cancer: one by genetic analysis
and the second by looking at the architecture of cells, or their
pathology. Using The Cancer Genome Atlas Breast Cancer Data set,
they developed classification method that divides breast cancers
into 12 distinct biological groups. This could aid future research
efforts and enable faster translation of molecular findings into
the pathology lab for clinical use, they report.



FULL STORY ========================================================================== Researchers at UNC Lineberger Comprehensive Cancer Center have taken a
major step forward in melding two key methods for studying breast cancer:
one by genetic analysis and the second by looking at the architecture
of cells, or their pathology. The investigators were able to link
the two thanks to a decade-long effort made possible by the federally
funded resource of The Cancer Genome Atlas (TCGA) Breast Cancer Data
set. The scientists found much agreement between genetic and pathologic classifications but developed a novel way to use data from both systems
to arrive at a classification method that divides breast cancers into
12 distinct biological groups.


==========================================================================
The findings appeared December 8, 2021, in Cell Genomics.

"We've known for a long time that breast cancer is not one disease, and
now through years of molecular research, added to decades of pathology knowledge, we have begun to integrate the two into one language,"
said Charles Perou, PhD, co-director of the UNC Lineberger Breast
Cancer Research Program, the May Goldman Shaw Distinguished Professor
of Molecular Oncology, and corresponding author of the research. "This
should greatly aid future research efforts and enable faster translation
of molecular findings into the pathology lab for clinical use." The World Health Organization has long classified breast tumors into multiple
types based on a tumor cell's unique shape, structure and size. The
most common type of breast cancer has been defined as invasive ductal
breast carcinoma; it accounts for 70 percent to 80 percent of all breast cancers. While this predominant type of breast cancer was of interest to
the researchers, it was the rarer types that held the most opportunity
for new discoveries in this finding.

TCGA's 10,000-plus tissue repository of 33 different types of cancer
types allowed the investigators to explore the previously known, but
rarer breast pathologies. However, obtaining a sufficient number of
samples to adequately study rarer types and subtypes of cancer was a
challenge. But the TCGA Breast Cancer team, led by Perou, was able to
obtain enough samples for at least six rare breast cancer subtypes,
each of which yielded interesting and unique molecular features.

Of particular note were rare metaplastic carcinomas, a breast cancer
subtype with a poor clinical prognosis. Through comparison to the entire
TCGA set of 10,000 tumors, the researchers found that some metaplastic
cancers were related closely to melanomas, which are aggressive skin
cancers, and to sarcomas, which are typically found in bone and connective tissue.

"Our effort finishes all planned analyses on TCGA, which has been a major undertaking," said Aatish Thennavan, a PhD graduate student in Perou's
lab and first author of the article. "In our study, we validated our
findings with other datasets that also had rarer subtypes. We would
urge future studies to incorporate rarer subtypes so we can build on
this foundational analysis." For their next efforts, the researchers
plan to delve deeper into the molecular features and cellular origins of metaplastic breast cancers. They are also interested in why some of the
12 biological groups show evidence of immune cells that are capable of infiltrating tumor cells, and why others tend not to have these immune infiltrates. This line of research has therapeutic implications as
there are treatments that have been developed that target immune cells
in breast cancers.

========================================================================== Story Source: Materials provided by
UNC_Lineberger_Comprehensive_Cancer_Center. Note: Content may be edited
for style and length.


========================================================================== Journal Reference:
1. Aatish Thennavan, Francisco Beca, Youli Xia, Susana Garcia-Recio,
Kimberly Allison, Laura C. Collins, Gary M. Tse, Yunn-Yi Chen,
Stuart J.

Schnitt, Katherine A. Hoadley, Andrew Beck, Charles
M. Perou. Molecular analysis of TCGA breast cancer
histologic types. Cell Genomics, 2021; 1 (3): 100067 DOI:
10.1016/j.xgen.2021.100067 ==========================================================================

Link to news story: https://www.sciencedaily.com/releases/2021/12/211208123405.htm

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